[ { "uniprot_canonical_ac": "Q8IXL7-1", "uniprot_id": [ { "id": "MSRB3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXL7", "type": "external" } ], "mass": 20702.0, "length": 192, "protein_name": "Methionine-R-sulfoxide reductase B3", "gene_name": "MSRB3", "organism": "Human", "refseq_name": "methionine-R-sulfoxide reductase B3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001026849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849", "type": "external" } ], "gene_names_uniprotkb": "MSRB3; PRO4487", "gene_names_refseq": "DFNB74; MSRB3", "protein_names_uniprotkb": "Methionine-R-sulfoxide reductase B3; 1.8.4.12; 1.8.4.14; MsrB3", "protein_names_refseq": "methionine-R-sulfoxide reductase B3 isoform 2 precursor; methionine-R-sulfoxide reductase B3, mitochondrial", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 74 (Disease Ontology:DOID:0110523)", "pathway": " (hsa:253827); (R-HSA-5676934)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10375640;10452521;10567350;11237011;12220640;12975309;14699060;15914630;16262444;21185009;30429286;30775993;31889586;32350084;32908641;35051231;3624258;38665916;7592526", "class_list": "", "function": "Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing., [UniProtKB, PubMed, PubMed]; Individuals with MSRB3 rs61921502 minor allele had increased odds for brain infarcts on MRI compared to those with no minor allele, [RefSeq, PubMed]; MSRB3 promotes the progression of clear cell renal cell carcinoma via regulating endoplasmic reticulum stress., [RefSeq, PubMed]; Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residues., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; MicroRNA-874-3p Aggravates Doxorubicin-Induced Renal Podocyte Injury via Targeting Methionine Sulfoxide Reductase B3. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [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": 1, "reported_mutagensis": 3, "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": "B4DR19;B7ZAQ0;Q6UXS2", "ec_number_list": [ { "id": "1.8.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.12", "type": "external" }, { "id": "1.8.4.14", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.14", "type": "external" } ], "go_molecular_function": "GO:0033743 peptide-methionine (R)-S-oxide reductase activity;GO:0033745 L-methionine-(R)-S-oxide reductase activity;GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0030091 protein repair", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8IXL7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15586-1", "uniprot_id": [ { "id": "GNS_HUMAN", "url": "https://www.uniprot.org/uniprot/P15586", "type": "external" } ], "mass": 62082.0, "length": 552, "protein_name": "N-acetylglucosamine-6-sulfatase", "gene_name": "GNS", "organism": "Human", "refseq_name": "N-acetylglucosamine-6-sulfatase precursor", "refseq_ac": [ { "id": "NP_002067", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002067", "type": "external" } ], "gene_names_uniprotkb": "GNS", "gene_names_refseq": "G6S; GNS", "protein_names_uniprotkb": "N-acetylglucosamine-6-sulfatase; 3.1.6.14; G6S; Glucosamine-6-sulfatase", "protein_names_refseq": "N-acetylglucosamine-6-sulfatase precursor; N-acetylglucosamine-6-sulfatase; glucosamine -6-sulfatase", "tax_id": 9606, "disease": "mucopolysaccharidosis type IIID (Disease Ontology:DOID:0111402); mucopolysaccharidosis III (Disease Ontology:DOID:12801)", "pathway": " (hsa:2799); (R-HSA-2022857); (R-HSA-2206305); (R-HSA-432720); (R-HSA-6798695)", "pathway_count": 5, "publication_count": 126, "publication_id_list": "10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10394364;10436028;11139587;11237011;11333915;11604418;11694590;11994746;12573255;12624138;12754519;12888274;1463457;1522213;15647514;16155256;16867982;16990043;17116749;1794986;17998446;18507432;18512783;1907800;19159218;1928092;19559397;19650410;19651769;20230749;20232353;20708039;21081667;21620353;22299025;22661428;22940367;23090970;23186163;23301498;23345538;23481700;23650620;23719902;24029068;24190977;25502872;25576301;25880248;25892735;26154972;26811146;27920218;28228285;28334745;28467828;28657654;28904123;29242379;29393594;29437277;29557506;2971395;29741879;29769354;30059200;30192525;30429286;30573663;3100754;31154438;31217245;31530632;31611695;31844290;31848261;3196333;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32938616;32983136;33043033;33214551;33298915;33392160;33592498;33968037;34019948;34078123;34087483;34089345;34357683;34405274;34509645;34725712;34932366;35051231;35154160;35251023;35580925;36010968;36215666;36241641;37074911;37541260;38665916;39302247;39531497;40596516;5822067;6450420;7213753;8374173;8524399;8670264;8692836;9521684;9733768", "class_list": "glycogene", "function": "12 new patients and 15 novel mutations were identified in Mucopolysaccharidosis type IIID., [RefSeq, PubMed]; Hydrolyzes 6-sulfate groups in N-acetyl-d-glucosaminide units of heparin sulfate and keratan sulfate., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Mice deficient in GNS showed lysosomal storage pathology and a phenotype that closely resembled human MPSIIID. Moreover, treatment of the GNS-deficient animals with GNS-encoding adeno-associated viral (AAV) vectors of serotype 9 delivered to the cerebrospinal fluid completely corrected pathological storage, improved lysosomal functionality in the CNS and somatic tissues, resolved neuroinflammation, [RefSeq, PubMed]; Sanfilippo syndrome type D has 3 novel mutations in the GNS Gene., [RefSeq, PubMed]; The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; We identified the novel homozygous single base pair insertion, c.1226GinsG, which leads to a frame-shift and a premature truncation of the GNS protein (p.R409Rfs21X)., [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": 16, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 12, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 16, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 16, "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": 647, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 117, "disease_count": 2, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "B4DYH8;Q53F05", "ec_number_list": [ { "id": "3.1.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.22.1", "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": "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": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "3.4.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.1", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0008449 N-acetylglucosamine-6-sulfatase activity;GO:0046872 metal ion binding;GO:0008484 sulfuric ester hydrolase activity;GO:0043199 sulfate binding;GO:0005539 glycosaminoglycan binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0070062 extracellular exosome;GO:1904813 ficolin-1-rich granule lumen;GO:0005764 lysosome;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0006027 glycosaminoglycan catabolic process;GO:0042340 keratan sulfate proteoglycan catabolic process;GO:0030200 heparan sulfate proteoglycan catabolic process;GO:0030203 glycosaminoglycan metabolic process", "synthesized_glycan_count": 0, "hit_score": 26.5, "record_id": "P15586-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6DN90-1", "uniprot_id": [ { "id": "IQEC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6DN90", "type": "external" } ], "mass": 108314.0, "length": 963, "protein_name": "IQ motif and SEC7 domain-containing protein 1", "gene_name": "IQSEC1", "organism": "Human", "refseq_name": "IQ motif and SEC7 domain-containing protein 1 isoform a", "refseq_ac": [ { "id": "NP_001127854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127854", "type": "external" } ], "gene_names_uniprotkb": "IQSEC1; ARFGEP100; BRAG2; KIAA0763", "gene_names_refseq": "ARF-GEP100; ARFGEP100; BRAG2; GEP100; IDDSSBA; IQSEC1", "protein_names_uniprotkb": "IQ motif and SEC7 domain-containing protein 1; ADP-ribosylation factors guanine nucleotide-exchange protein 100; ADP-ribosylation factors guanine nucleotide-exchange protein 2; BRAG2; Brefeldin-resistant Arf-GEF 2 protein", "protein_names_refseq": "ADP-ribosylation factors guanine nucleotide-exchange protein 100; ADP-ribosylation factors guanine nucleotide-exchange protein 2; IQ motif and SEC7 domain-containing protein 1 isoform a; IQ motif and SEC7 domain-containing protein 1; IQ motif and Sec7 domain 1; brefeldin A-resistant ARF-GEF2; brefeldin-resistant Arf-GEF 2 protein; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "intellectual developmental disorder with short stature and behavioral abnormalities (Disease Ontology:DOID:0111674); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910)", "pathway": " (hsa:9922)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "11226253;11237011;15302935;16461286;16807291;18084281;18669648;19413330;20058876;20068231;20166139;21406692;23186163;24058294;24275569;24714562;24715725;25576301;25892735;26375851;26992070;27846572;27862975;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30524438;31217245;31607425;31844290;32157095;32234213;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33712589;33717175;33912179;33968037;33981976;34509645;34561969;34932366;35051231;35154160;35580925;36010968;36284347;36517907;37217939;37495273;38665916;40914422", "class_list": "", "function": "An ARF GTPase module promoting invasion and metastasis through regulating phosphoinositide metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; Arf6 regulates both endocytosis and recycling of beta1 integrins and BRAG2 (IQSEC1) functions selectively to activate Arf6 during integrin internalization, [RefSeq, PubMed]; Calcium-stimulated disassembly of focal adhesions mediated by an ORP3/IQSec1 complex. Publication Status: Online-Only, [RefSeq, PubMed]; Circ-Iqsec1 induces bone marrow-derived mesenchymal stem cell (BMSC) osteogenic differentiation through the miR-187-3p/Satb2 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Contribution of gene polymorphisms on 3p25 to salivary gland carcinoma, ameloblastoma, and odontogenic keratocyst in the Chinese Han population., [RefSeq, PubMed]; Guanine nucleotide exchange factor for ARF1 and ARF6 (PubMed:11226253, PubMed:24058294). Guanine nucleotide exchange factor activity is enhanced by lipid binding (PubMed:24058294). Accelerates GTP binding by ARFs of all three classes. Guanine nucleotide exchange protein for ARF6, mediating internalization of beta-1 integrin (PubMed:16461286). Involved in neuronal development (Probable). In neurons, plays a role in the control of vesicle formation by endocytoc cargo. Upon long term depression, interacts with GRIA2 and mediates the activation of ARF6 to internalize synaptic AMPAR receptors (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Guanine nucleotide-exchange protein (GEP) 100/BRAG2 has an important role in the activation of ADP-ribosylation factor (ARF)6 for its functions in both E-cadherin recycling and actin remodeling., [RefSeq, PubMed]; Results indicate that GEP100 links EGFR signalling to Arf6 activation to induce invasive activities of some breast cancer cells, and hence may contribute to their metastasis and malignancy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 11, "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": "A0A087WWK8;O94863;Q96D85", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0008021 synaptic vesicle;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0051549 positive regulation of keratinocyte migration;GO:0060996 dendritic spine development;GO:0016192 vesicle-mediated transport;GO:0032012 regulation of ARF protein signal transduction;GO:0120183 positive regulation of focal adhesion disassembly", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q6DN90-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O97980-1", "uniprot_id": [ { "id": "HMHB1_HUMAN", "url": "https://www.uniprot.org/uniprot/O97980", "type": "external" } ], "mass": 4965.0, "length": 41, "protein_name": "Minor histocompatibility protein HB-1", "gene_name": "HMHB1", "organism": "Human", "refseq_name": "minor histocompatibility protein HB-1", "refseq_ac": [ { "id": "NP_067005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067005", "type": "external" } ], "gene_names_uniprotkb": "HMHB1", "gene_names_refseq": "HB-1Y; HB-1; HLA-HB1; HMHB1", "protein_names_uniprotkb": "Minor histocompatibility protein HB-1", "protein_names_refseq": "minor histocompatibility antigen HB-1; minor histocompatibility protein HB-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57824)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;12355426;15102363;18093280;19240061;20353833;20718936;8992968;9892612", "class_list": "", "function": "Improved genotyping of the human minor histocompatibility antigen HB-1 by polymerase chain reaction with sequence-specific primers using a complementary oligonucleotide., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; Precursor of the histocomplatibility antigen HB-1. More generally, minor histocomplatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocomplatibility antigen in HLA-matched sibling marrow transplants. HB-1 is presented on the cell surface by MHC class I HLA-B44. This complex specifically elicits donor-cytotoxic T lymphocyte (CTL) reactivity in B-cell acute lymphoblastic leukemia (B-ALL) after treatment by HLA-identical allogenic bone marrow transplantation (BMT). It induces cell recognition and lysis by CTL. However, HB-1 restricted expression in B-ALL cells and not in normal tissues may allow a specific CTL reactivity against B-ALL without the risk of evoking graft-versus-host disease., [UniProtKB, PubMed, PubMed, PubMed]; The paper described that non-AUG (CTG) translation initiation codon at nucleotide positions 108-110 was used for the encoded protein., [RefSeq, PubMed]; This gene encodes one of the minor histocompatibility antigens, which play an important role in the induction of cytotoxic T lymphocyte (CTL) reactivity against leukemia after human histocompatibility leukocyte antigen (HLA)-identical allogeneic bone marrow transplantation (BMT). This gene is only expressed in B cell acute lymphoblastic leukemia cells and Epstein-Barr virus-transformed B cells. The translation of this mRNA initiates at a non-AUG (CUG) codon. [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": 11, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9MY25", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0002250 adaptive immune response;GO:0032729 positive regulation of type II interferon production;GO:0010468 regulation of gene expression;GO:0071356 cellular response to tumor necrosis factor", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "O97980-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MH2-1", "uniprot_id": [ { "id": "HEXI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MH2", "type": "external" } ], "mass": 32419.0, "length": 286, "protein_name": "Protein HEXIM2", "gene_name": "HEXIM2", "organism": "Human", "refseq_name": "protein HEXIM2 isoform 2", "refseq_ac": [ { "id": "NP_001290365", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290365", "type": "external" } ], "gene_names_uniprotkb": "HEXIM2; L3", "gene_names_refseq": "HEXIM2; L3", "protein_names_uniprotkb": "Protein HEXIM2; Hexamethylene bis-acetamide-inducible protein 2", "protein_names_refseq": "MAQ1 paralog; hexamethylene bis-acetamide inducible 2; hexamethylene bis-acetamide-inducible protein 2; hexamethylene bisacetamide inducible 2; hexamethylene-bis-acetamide-inducible transcript 2; protein HEXIM2 isoform 2; protein HEXIM2", "tax_id": 9606, "disease": "", "pathway": " (hsa:124790)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;15302935;15334068;15713661;15713662;15965233;15994294;17081983;18220336;18452278;18669648;18767875;19413330;19651622;19664994;19664995;19883659;20068231;21406692;23186163;24275569;29393594;32265295;33912179;35051231;38816355;39894887", "class_list": "", "function": "HEXIM2 can functionally and quantitatively compensate for the loss of HEXIM1, [RefSeq, PubMed]; Positive transcription elongation factor b regulates eukaryotic gene expression at the level of elongation and is controlled by the reversible association with HEXIM2., [RefSeq, PubMed]; Rapid P-TEFb-dependent transcriptional reorganization underpins the glioma adaptive response to radiotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the HEXIM family of proteins. This protein is a component of the 7SK small nuclear ribonucleoprotein. This protein has been found to negatively regulate the kinase activity of the cyclin-dependent kinase P-TEFb, which phosphorylates multiple target proteins to promote transcriptional elongation. This gene is located approximately 7 kb downstream from related family member HEXIM1 on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]; Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor (PubMed:15713661, PubMed:15713662). Core component of the 7SK RNP complex: in cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation (PubMed:15713661, PubMed:15713662)., [UniProtKB, PubMed, PubMed]; Utilization of HEXIM1 or HEXIM2 to bind and inhibit P-TEFb can be differentially regulated in vivo., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "D3DX66", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0017069 snRNA binding;GO:0097322 7SK snRNA binding;GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0010972 negative regulation of G2/M transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q96MH2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99527-1", "uniprot_id": [ { "id": "GPER1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99527", "type": "external" } ], "mass": 42248.0, "length": 375, "protein_name": "G protein-coupled estrogen receptor 1", "gene_name": "GPER1", "organism": "Human", "refseq_name": "G-protein coupled estrogen receptor 1", "refseq_ac": [ { "id": "NP_001035055", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035055", "type": "external" } ], "gene_names_uniprotkb": "GPER1; CEPR; CMKRL2; DRY12; GPER; GPR30", "gene_names_refseq": "CEPR; CMKRL2; DRY12; FEG-1; GPCR-Br; GPER1; GPER; GPR30; LERGU2; LERGU; LyGPR; mER", "protein_names_uniprotkb": "G protein-coupled estrogen receptor 1; Chemoattractant receptor-like 2; FEG-1; Flow-induced endothelial G protein-coupled receptor 1; G protein-coupled receptor 30; GPCR-Br; IL8-related receptor DRY12; LYGPR; Lymphocyte-derived G protein-coupled receptor; Membrane estrogen receptor; mER", "protein_names_refseq": "G protein-coupled receptor 30; G-protein coupled estrogen receptor 1; IL8-related receptor DRY12; chemoattractant receptor-like 2; chemokine receptor-like 2; constitutively expressed peptide-like receptor; flow-induced endothelial G-protein coupled receptor 1; heptahelix receptor; lymphocyte-derived G-protein coupled receptor; membrane estrogen receptor", "tax_id": 9606, "disease": "generalized anxiety disorder (Disease Ontology:DOID:14320); melanoma (Disease Ontology:DOID:1909)", "pathway": " (hsa:2852); (R-HSA-375276); (R-HSA-418594); (R-HSA-9634597)", "pathway_count": 4, "publication_count": 159, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10714768;10854085;10899166;11007482;11043579;11237011;11322507;11385580;11457843;11562423;11683476;11773063;11773440;12027886;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;14675202;15139756;15245432;15539556;1567413;15705806;15947423;15951850;1655761;16634148;16645038;16923326;1710450;1710578;1719979;1722333;17379646;18127230;18434541;1847994;18566127;18577758;19054851;19179659;19342448;19741198;19749156;19931550;20203690;20551055;21149639;21242460;21354433;21427217;21540189;21844907;22495674;22521564;23135268;23283935;23285008;23446738;23674134;23690594;24530924;24906252;24962572;2534964;26190834;2649896;26987903;27392633;2748346;27496565;2834384;28450397;28595943;28596490;29557506;30760632;3202875;3366244;35051231;3525564;3856870;39201674;39467628;6274691;6281660;6373251;6589611;7057924;7524088;7568118;7590751;7592910;7592911;7624359;7651538;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8598224;8615752;8666380;8702633;8702752;873923;8823230;8920907;9070864;9141481;9171878;9367686;9398636;9479505;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "G protein-coupled estrogen receptor that binds to 17-beta-estradiol (E2) with high affinity, leading to rapid and transient activation of numerous intracellular signaling pathways. Stimulates cAMP production, calcium mobilization and tyrosine kinase Src inducing the release of heparin-bound epidermal growth factor (HB-EGF) and subsequent transactivation of the epidermal growth factor receptor (EGFR), activating downstream signaling pathways such as PI3K/Akt and ERK/MAPK. Mediates pleiotropic functions among others in the cardiovascular, endocrine, reproductive, immune and central nervous systems. Has a role in cardioprotection by reducing cardiac hypertrophy and perivascular fibrosis in a RAMP3-dependent manner. Regulates arterial blood pressure by stimulating vasodilation and reducing vascular smooth muscle and microvascular endothelial cell proliferation. Plays a role in blood glucose homeostasis contributing to the insulin secretion response by pancreatic beta cells. Triggers mitochondrial apoptosis during pachytene spermatocyte differentiation. Stimulates uterine epithelial cell proliferation. Enhances uterine contractility in response to oxytocin. Contributes to thymic atrophy by inducing apoptosis. Attenuates TNF-mediated endothelial expression of leukocyte adhesion molecules. Promotes neuritogenesis in developing hippocampal neurons. Plays a role in acute neuroprotection against NMDA-induced excitotoxic neuronal death. Increases firing activity and intracellular calcium oscillations in luteinizing hormone-releasing hormone (LHRH) neurons. Inhibits early osteoblast proliferation at growth plate during skeletal development. Inhibits mature adipocyte differentiation and lipid accumulation. Involved in the recruitment of beta-arrestin 2 ARRB2 at the plasma membrane in epithelial cells. Also functions as a receptor for aldosterone mediating rapid regulation of vascular contractibility through the PI3K/ERK signaling pathway. Involved in cancer progression regulation. Stimulates cancer-associated fibroblast (CAF) proliferation by a rapid genomic response through the EGFR/ERK transduction pathway. Associated with EGFR, may act as a transcription factor activating growth regulatory genes (c-fos, cyclin D1). Promotes integrin alpha-5/beta-1 and fibronectin (FN) matrix assembly in breast cancer cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Suppressing Expression of SERPINE1/PAI1 Through Activation of GPER1 Reduces Progression of Vulvar Carcinoma., [RefSeq, PubMed]; The GPR30 Receptor Is Involved in IL-6-Induced Metastatic Properties of MCF-7 Luminal Breast Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum and a member of the G-protein coupled receptor 1 family. This receptor binds estrogen and activates multiple downstream signaling pathways, leading to stimulation of adenylate cyclase and an increase in cyclic AMP levels, while also promoting intracellular calcium mobilization and synthesis of phosphatidylinositol 3,4,5-trisphosphate in the nucleus. This protein therefore plays a role in the rapid nongenomic signaling events widely observed following stimulation of cells and tissues with estrogen. This receptor has been shown to play a role in diverse biological processes, including bone and nervous system development, metabolism, cognition, male fertility and uterine function. [provided by RefSeq, Aug 2017]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 15, "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": "A8K6C5;B5BUJ1;O00143;O43494;Q13631;Q6FHL1;Q96F42;Q99981", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0004930 G protein-coupled receptor activity;GO:0005496 steroid binding;GO:1990239 steroid hormone binding;GO:0030284 nuclear estrogen receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0002695 negative regulation of leukocyte activation;GO:0010948 negative regulation of cell cycle process;GO:0030264 nuclear fragmentation involved in apoptotic nuclear change;GO:0032962 positive regulation of inositol trisphosphate biosynthetic process;GO:2000724 positive regulation of cardiac vascular smooth muscle cell differentiation", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "Q99527-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2Y9-1", "uniprot_id": [ { "id": "KLF13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2Y9", "type": "external" } ], "mass": 31180.0, "length": 288, "protein_name": "Krueppel-like factor 13", "gene_name": "KLF13", "organism": "Human", "refseq_name": "Krueppel-like factor 13 isoform 2", "refseq_ac": [ { "id": "NP_001289390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289390", "type": "external" } ], "gene_names_uniprotkb": "KLF13; BTEB3; NSLP1", "gene_names_refseq": "BTEB3; FKLF2; KLF13; NSLP1; RFLAT-1; RFLAT1", "protein_names_uniprotkb": "Krueppel-like factor 13; BTE-binding protein 3; Basic transcription element-binding protein 3; Novel Sp1-like zinc finger transcription factor 1; RANTES factor of late activated T-lymphocytes 1; RFLAT-1; Transcription factor BTEB3; Transcription factor NSLP1", "protein_names_refseq": "BTE-binding protein 3; Krueppel-like factor 13 isoform 2; Kruppel like factor 13; RANTES factor of late activated T lymphocytes-1; basic transcription element binding protein 3; novel Sp1-like zinc finger transcription factor 1; transcription factor BTEB3; transcription factor NSLP1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51621); (R-HSA-9976102)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10023774;10415854;11237011;11477107;17513757;20068231;23186163;28832583;28904123;29242379;30410026;31844290;32157095;32387766;32983136;33633747;35051231;36346048;36552891;36580668;37817224;38973459", "class_list": "", "function": "KLF13 Loss-of-Function Mutations Underlying Familial Dilated Cardiomyopathy., [RefSeq, PubMed]; KLF13 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]., [RefSeq]; KLF13 restrains Dll4-muscular Notch2 axis to improve the muscle atrophy., [RefSeq, PubMed]; Kruppel-like Factors 3 Regulates Migration and Invasion of Gastric Cancer Cells Through NF-kappaB Pathway., [RefSeq, PubMed]; Kruppel-like factor 13 acts as a tumor suppressor in thyroid carcinoma by downregulating IFIT1. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor that activates expression from GC-rich minimal promoter regions, including genes in the cells of the erythroid lineage (By similarity). Represses transcription by binding to the BTE site, a GC-rich DNA element, in competition with the activator SP1. It also represses transcription by interacting with the corepressor Sin3A and HDAC1 (PubMed:11477107). Activates RANTES and CCL5 expression in T-cells (PubMed:17513757)., [UniProtKB, UniProtKB, PubMed, PubMed]; UC-BSCs Exosomes Regulate Th17/Treg Balance in Patients with Systemic Lupus Erythematosus via miR-19b/KLF13. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q9Y356", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0008285 negative regulation of cell population proliferation;GO:0006366 transcription by RNA polymerase II;GO:0045647 negative regulation of erythrocyte differentiation;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9Y2Y9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14330-1", "uniprot_id": [ { "id": "GPR18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14330", "type": "external" } ], "mass": 38134.0, "length": 331, "protein_name": "N-arachidonyl glycine receptor", "gene_name": "GPR18", "organism": "Human", "refseq_name": "N-arachidonyl glycine receptor", "refseq_ac": [ { "id": "NP_001091670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091670", "type": "external" } ], "gene_names_uniprotkb": "GPR18; GPCRW", "gene_names_refseq": "DRV2; GPR18", "protein_names_uniprotkb": "N-arachidonyl glycine receptor; G protein-coupled receptor 18; NAGly receptor", "protein_names_refseq": "N-arachidonyl glycine receptor; NAGly receptor; resolvin D2 receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:2841); (R-HSA-373076); (R-HSA-418594)", "pathway_count": 3, "publication_count": 52, "publication_id_list": "11007482;11237011;12120503;12522134;12524422;12955148;14617636;15141213;15280385;15326175;15929991;15951850;16540462;1656963;16634148;16754668;16844083;16923326;17139494;17339491;17462861;17876302;18434541;18577758;18588883;21732409;21796212;2263478;24762058;2534964;26195725;27018161;2748346;27572937;27994074;2834384;29393594;29557506;30503722;31075933;33058313;35051231;35525326;7498464;7568007;7689702;7775459;7937899;7946354;8015379;8406495;9205118", "class_list": "", "function": "G protein-coupled receptor (GPCR) that plays a role in diverse physiological processes particularly within the immune and nervous systems (PubMed:21732409, PubMed:26195725). Becomes active when triggered by various endogenous ligands including endocannabinoid N-arachidonyl glycine (NAGly), delta-9-tetrahydrocannabinol or resolvin D2/RvD2 derived from the omega-3 fatty acid docosahexaenoic acid (DHA) (PubMed:16844083, PubMed:24762058, PubMed:26195725, PubMed:27572937). Upon RvD2 binding, facilitates the resolution of inflammation, aiding in tissue repair and homeostasis. Mechanistically, RvD2 ligation initiates Galphas protein coupling, activation of cAMP-PKA signaling pathway and phosphorylation of STAT3, leading to RvD2-stimulated macrophage phagocytosis (PubMed:27994074). Mediates NAGly-induced process of reorganization of actin filaments and induction of acrosomal exocytosis (PubMed:27572937). Activation by N-arachidonoyl glycine (NAGly) can also induce apoptosis in macrophages (By similarity). Plays a role in homeostasis of CD8+ subsets of intraepithelial lymphocytes (IELs) (CD8alphaalpha and CD8alphabeta IELs) in small intestine by supporting preferential migration of CD8alphaalpha T-cells to intraepithelial compartment over lamina propria compartment, and by mediating their reconstitution into small intestine after bone marrow transplant (By similarity). Also participates in hypotensive responses, mediating reduction in intraocular and blood pressure (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Lipopolysaccharides-Toll-like receptor (TLR)4 signaling mediated the GPR18 expression on polymorphonuclear neutrophils. These results indicate that decreased percentage GPR18-positive polymorphonuclear neutrophils is associated with increased severity and poorer outcome of sepsis., [RefSeq, PubMed]; Molecular dynamics simulations of wild-type (WT) GPR18 and the A3.39N mutant in fully hydrated (POPC) phophatidylcholine lipid bilayers, are reported. Publication Status: Online-Only, [RefSeq, PubMed]; N-arachidonylglycine is a natural ligand for GPR18, [RefSeq, PubMed]; Novel selective agonist of GPR18, PSB-KK-1415 exerts potent anti-inflammatory and anti-nociceptive activities in animal models of intestinal inflammation and inflammatory pain., [RefSeq, PubMed]; The resolvin D2 - GPR18 axis is expressed in human coronary atherosclerosis and transduces atheroprotection in apolipoprotein E deficient mice., [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": 1, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6GTM3;Q96HI6;Q9H2L2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q14330-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHS9-1", "uniprot_id": [ { "id": "SPT22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHS9", "type": "external" } ], "mass": 41318.0, "length": 363, "protein_name": "Spermatogenesis-associated protein 22", "gene_name": "SPATA22", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 22 isoform 4", "refseq_ac": [ { "id": "NP_001308265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308265", "type": "external" } ], "gene_names_uniprotkb": "SPATA22", "gene_names_refseq": "NYD-SP20; NYDSP20; POF25; SPATA22; SPGF96", "protein_names_uniprotkb": "Spermatogenesis-associated protein 22; Testis development protein NYD-SP20", "protein_names_refseq": "spermatogenesis-associated protein 22 isoform 4; spermatogenesis-associated protein 22; testicular tissue protein Li 186; testis development protein NYD-SP20", "tax_id": 9606, "disease": "spermatogenic failure 96 (Disease Ontology:DOID:0070725); premature ovarian failure 25 (MONDO:MONDO:0975843)", "pathway": " (hsa:84690)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;15713825;20378615;23675907;29557506;33812231;34392356;35285020;36331299", "class_list": "", "function": "Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest., [RefSeq, PubMed]; Data indicate that the positive expression of studied genes fertilization rate for GAPDHS positive subset was 66%, ACR - 71%, SPATA22 - 68%, MND1 - 70%, pregnancy rates were 8%, 6%, 18% and 36% respectively. Publication Status: Online-Only, [RefSeq, PubMed]; Meiosis-specific protein required for homologous recombination in meiosis I., [UniProtKB, UniProtKB]; Nuclear localization of human MEIOB requires its NLS in the OB domain and interaction with SPATA22., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The meiosis-specific MEIOB-SPATA22 complex cooperates with RPA to form a compacted mixed MEIOB/SPATA22/RPA/ssDNA complex., [RefSeq, PubMed]; Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DXB1;D3DTI9;J3KN63;Q969H3;Q96JT4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005694 chromosome", "go_biological_process": "GO:0051445 regulation of meiotic cell cycle;GO:0007129 homologous chromosome pairing at meiosis;GO:0000711 meiotic DNA repair synthesis;GO:0048137 spermatocyte division;GO:0007276 gamete generation", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NHS9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXG9-1", "uniprot_id": [ { "id": "AGRV1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXG9", "type": "external" } ], "mass": 693069.0, "length": 6306, "protein_name": "Adhesion G protein-coupled receptor V1", "gene_name": "ADGRV1", "organism": "Human", "refseq_name": "adhesion G-protein coupled receptor V1 precursor", "refseq_ac": [ { "id": "NP_115495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115495", "type": "external" } ], "gene_names_uniprotkb": "ADGRV1; GPR98; KIAA0686; KIAA1943; MASS1; VLGR1", "gene_names_refseq": "ADGRV1; FEB4; GPR98; MASS1; USH2B; USH2C; VLGR1b; VLGR1", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor V1; 3.4.-.-; ADGRV1; G protein-coupled receptor 98; Monogenic audiogenic seizure susceptibility protein 1 homolog; Usher syndrome type-2C protein; Very large G protein-coupled receptor 1", "protein_names_refseq": "G-protein coupled receptor 98; adhesion G-protein coupled receptor V1 precursor; monogenic audiogenic seizure susceptibility protein 1 homolog; usher syndrome type-2C protein; very large G-protein coupled receptor 1", "tax_id": 9606, "disease": "Usher syndrome type 2C (Disease Ontology:DOID:0110839); familial febrile seizures 4 (Disease Ontology:DOID:0111305); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:84059); (R-HSA-9619665)", "pathway_count": 2, "publication_count": 147, "publication_id_list": "10.1101/2023.09.13.557529;10203854;10220111;10400691;10727776;10757804;10856243;10976914;11115854;11133365;11157804;11230166;11237011;11356866;11394999;11430795;11430802;11606593;11734543;11782409;12056842;12145339;12198163;12402266;12782656;12799134;14512514;14522948;14664827;14740321;15150276;15189448;15356632;15610069;15695336;15836632;15907797;16136673;16311519;16319321;16373334;16434480;16923174;1704008;17325040;17699610;17959798;18452278;18634568;18803322;19143832;19156870;19321787;19745155;1975954;19922439;20149798;20213556;20440071;20625412;20832498;21044070;21326363;21411665;21423190;21423191;21613327;21653862;22053691;22147658;22180461;22333914;22424782;22492709;22764250;22814607;23481700;23695165;23747866;23874858;24191038;24227709;24646194;24675079;24715725;25645385;25713288;25892735;25974668;26423937;26441514;26811146;26992070;27220739;27288457;27543614;27600516;27859941;28228285;28514659;28852375;28904123;29351928;29393594;29557506;29741879;29748249;30524438;31092671;31324691;31530632;31844290;31848261;32357974;32387766;32938616;33141586;33592498;33968037;34087483;34171305;34405274;34561969;34638692;34932366;35008409;35051231;35630584;36010968;36399868;36929698;37002809;38253038;7925941;7935840;8138712;8349731;8619637;8627307;8647822;8662541;8842374;9418958;9482253;9705348;9748295;9858769", "class_list": "", "function": "Affinity Proteomics Identifies Interaction Partners and Defines Novel Insights into the Function of the Adhesion GPCR VLGR1/ADGRV1. Publication Status: Online-Only, [RefSeq, PubMed]; Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush. Publication Status: Online-Only, [RefSeq, PubMed]; Cleaved ADGRV1 beta-subunit couples with G-alpha(i)-proteins, GNAI1/2/3, and constitutively inhibits adenylate cyclase (AC) activity with a stronger effect than full ADGRV1., [UniProtKB, UniProtKB]; G protein-coupled receptor which has an essential role in the development of hearing and vision. Couples to G-alpha(i)-proteins, GNAI1/2/3, G-alpha(q)-proteins, GNAQ, as well as G-alpha(s)-proteins, GNAS, inhibiting adenylate cyclase (AC) activity and cAMP production. Required for the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells of the inner ear. In response to extracellular calcium, activates kinases PKA and PKC to regulate myelination by inhibiting the ubiquitination of MAG, thus enhancing the stability of this protein in myelin-forming cells of the auditory pathway. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. Involved in the regulation of bone metabolism., [UniProtKB, UniProtKB]; Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children., [RefSeq, PubMed]; Monitoring paxillin in astrocytes reveals the significance of the adhesion G protein coupled receptor VLGR1/ADGRV1 for focal adhesion assembly., [RefSeq, PubMed]; The adhesion G protein-coupled receptor VLGR1/ADGRV1 controls autophagy., [RefSeq, PubMed]; This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 30, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 30, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 30, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 216, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 3, "glyco_site_count": 37, "binding_glycan_count": 0, "secondary_ac_list": "O75171;Q8TF58;Q9H0X5;Q9UL61", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" } ], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0016787 hydrolase activity;GO:0005509 calcium ion binding;GO:0001965 G-protein alpha-subunit binding;GO:0010855 adenylate cyclase inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0048496 maintenance of animal organ identity;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007399 nervous system development;GO:0050910 detection of mechanical stimulus involved in sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 19.4, "record_id": "Q8WXG9-1", "record_type": "protein", "filter_code": "0000000.1000111.000100.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BW83-1", "uniprot_id": [ { "id": "IFT27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BW83", "type": "external" } ], "mass": 20480.0, "length": 186, "protein_name": "Intraflagellar transport protein 27 homolog", "gene_name": "IFT27", "organism": "Human", "refseq_name": "intraflagellar transport protein 27 homolog isoform 1", "refseq_ac": [ { "id": "NP_001171172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171172", "type": "external" } ], "gene_names_uniprotkb": "IFT27; RABL4; RAYL", "gene_names_refseq": "BBS19; CFAP156; FAP156; IFT27; RABL4; RAYL", "protein_names_uniprotkb": "Intraflagellar transport protein 27 homolog; Putative GTP-binding protein RAY-like; Rab-like protein 4", "protein_names_refseq": "RAB, member of RAS oncogene family-like 4; intraflagellar transport protein 27 homolog isoform 1; intraflagellar transport protein 27 homolog; rab-like protein 4", "tax_id": 9606, "disease": "Bardet-Biedl syndrome 19 (Disease Ontology:DOID:0110141); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:11020); (R-HSA-5620924)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "10069812;11237011;11285270;12795688;15231740;15269286;15489852;15523559;15955805;16049494;16435301;16492809;16775004;16782012;17312020;17314406;17574030;18180368;18304522;18364699;18369462;18477386;18852297;19112494;19147001;19253336;19384852;19450523;19720863;19805633;20435895;20526327;20526328;20530210;20889716;21427764;21936775;22118932;22922713;22992454;23481700;23945166;23990561;24140113;24296415;24366607;24488770;24596149;24616010;24715725;25205765;25349261;25443296;25576301;25645385;26154972;26992070;27600516;27920218;28228285;28510447;28832583;28834231;28904123;29242379;29557506;29632711;29786170;30429286;30524438;30779550;31154438;31217245;31844290;32157095;32357974;32387766;32488085;32897882;32938616;33298915;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34888642;35051231;35318648;35580925;36010968;36241641;39894887;40384633;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome., [RefSeq, PubMed]; Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6 (PubMed:25443296, PubMed:40384633). Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6 (PubMed:25443296). Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Study coupled human genetics with functional validation in zebrafish and identified IFT27 as a novel BBS gene (BBS19)., [RefSeq, PubMed]; This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O60897", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0001822 kidney development;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q9BW83-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSD3-1", "uniprot_id": [ { "id": "RHNO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSD3", "type": "external" } ], "mass": 26709.0, "length": 238, "protein_name": "RAD9, HUS1, RAD1-interacting nuclear orphan protein 1", "gene_name": "RHNO1", "organism": "Human", "refseq_name": "RAD9, HUS1, RAD1-interacting nuclear orphan protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001239428", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239428", "type": "external" } ], "gene_names_uniprotkb": "RHNO1; C12orf32; HKMT1188; RHINO", "gene_names_refseq": "C12orf32; HKMT1188; RHINO; RHNO1", "protein_names_uniprotkb": "RAD9, HUS1, RAD1-interacting nuclear orphan protein 1; RAD9, RAD1, HUS1-interacting nuclear orphan protein", "protein_names_refseq": "RAD9, HUS1, RAD1-interacting nuclear orphan protein 1 isoform 1; RAD9, HUS1, RAD1-interacting nuclear orphan protein 1; Rad9, Rad1, Hus1 interacting nuclear orphan; rAD9, RAD1, HUS1-interacting nuclear orphan protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:83695); (R-HSA-5685938); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-9709570)", "pathway_count": 7, "publication_count": 157, "publication_id_list": "10212258;10373512;10435622;10438626;10500146;10551859;10570149;10570174;10604467;10673500;10673501;10710310;10733923;10744977;10859164;10884347;10921897;11080452;11139606;11237011;11239457;11301010;11376695;11390642;11447225;11511362;11546806;11551930;11571269;11698410;11740489;11751635;11780126;11832208;12064478;12139939;12152085;12191481;12226092;12228710;12370410;12379650;12393879;12545175;12578958;12702766;12750383;12791985;12851404;12914926;14576433;14702041;14734547;15053879;15189136;15190204;15221005;15359272;15485900;15665856;15703751;15707391;15866171;16148040;16153896;16322561;16327781;16360315;16530042;16885023;17108107;17349958;17515903;17575048;17591690;17928296;17962301;17965729;18171670;18317453;18490454;18539610;18541667;18757400;18805091;18923075;18971343;19121998;19357644;19419957;19965871;20154705;20233725;20729832;20729858;20729859;20811708;20959462;20965415;21052091;21240188;21263215;21317932;21325134;21335604;21565612;21659603;21680713;21777809;21804533;22021381;22024395;22194698;22231403;22635276;22661229;22661230;22792074;22977173;23000554;23149936;23345434;23468639;23485397;23676219;23810717;24013206;24145406;24562772;24874608;25113031;25122754;25558984;25602520;25659039;26145171;26154972;26758079;27920218;29242379;29557506;30429286;31776186;31848261;32488085;32983136;33890574;33978741;34440403;36172813;37364391;37440612;38354779;8702565;9705271;9837724;9925639", "class_list": "", "function": "Co-regulation and function of FOXM1/RHNO1 bidirectional genes in cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Germline variation in the RHINO gene is unlikely to influence inherited susceptibility to breast cancer., [RefSeq, PubMed]; Identified C12orf32 to be significantly up-regulated in the great majority of clinical breast cancer specimens., [RefSeq, PubMed]; Involved in microhomology-mediated end-joining (MMEJ) DNA repair by promoting recruitment of polymerase theta (POLQ) to DNA damage sites during mitosis (PubMed:37440612). MMEJ is an alternative non-homologous end-joining (NHEJ) machinery that takes place during mitosis to repair double-strand breaks in DNA that originate in S-phase (PubMed:37440612). Accumulates in M-phase; following phosphorylation by PLK1, interacts with POLQ, enabling its recruitment to double-strand breaks for subsequent repair (PubMed:37440612). Also involved in the DNA damage response (DDR) signaling in response to genotoxic stresses such as ionizing radiation (IR) during the S phase (PubMed:21659603, PubMed:25602520). Recruited to sites of DNA damage through interaction with the 9-1-1 cell-cycle checkpoint response complex and TOPBP1 in a ATR-dependent manner (PubMed:21659603, PubMed:25602520). Required for the progression of the G1 to S phase transition (PubMed:21659603). Plays a role in the stimulation of CHEK1 phosphorylation (PubMed:21659603)., [UniProtKB, PubMed, PubMed, PubMed]; RHINO directs MMEJ to repair DNA breaks in mitosis., [RefSeq, PubMed]; RHNO1 disruption inhibits cell proliferation and induces mitochondrial apoptosis via PI3K/Akt pathway in hepatocellular carcinoma., [RefSeq, PubMed]; Structural basis for intra- and intermolecular interactions on RAD9 subunit of 9-1-1 checkpoint clamp implies functional 9-1-1 regulation by RHINO., [RefSeq, PubMed]; We suggest that RHINO functions together with the 9-1-1 complex and TopBP1 to fully activate ATR (ataxia telangiectasia and Rad3-related., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 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": "B7Z989", "ec_number_list": [], "go_molecular_function": "GO:0140463 chromatin-protein adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0035861 site of double-strand break;GO:0005694 chromosome", "go_biological_process": "GO:1990166 protein localization to site of double-strand break;GO:0097681 double-strand break repair via alternative nonhomologous end joining;GO:0034644 cellular response to UV;GO:0071479 cellular response to ionizing radiation;GO:0000077 DNA damage checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "Q9BSD3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15218-1", "uniprot_id": [ { "id": "ACKR5_HUMAN", "url": "https://www.uniprot.org/uniprot/O15218", "type": "external" } ], "mass": 45323.0, "length": 404, "protein_name": "Atypical chemokine receptor 5", "gene_name": "ACKR5", "organism": "Human", "refseq_name": "atypical chemokine receptor 5", "refseq_ac": [ { "id": "NP_009195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009195", "type": "external" } ], "gene_names_uniprotkb": "ACKR5; ADMR; GPR182", "gene_names_refseq": "7TMR; ACKR5; ADMR; AM-R; AMR; G10D; GPR182; L1-R; gamrh; hrhAMR", "protein_names_uniprotkb": "Atypical chemokine receptor 5; G protein-coupled receptor 182", "protein_names_refseq": "G protein-coupled receptor 182; adrenomedullin receptor; atypical chemokine receptor 5", "tax_id": 9606, "disease": "pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:11318)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;28218747;29557506;32387766;33875597;35013216;36010968;36215666;37554323;38026988;9367907;9535752", "class_list": "", "function": "Adrenomedullin is a potent vasodilator peptide that exerts major effects on cardiovascular function. This gene encodes a seven-transmembrane protein that belongs to the family 1 of G-protein coupled receptors. Studies of the rat counterpart suggest that the encoded protein may function as a receptor for adrenomedullin. [provided by RefSeq, Jul 2008]., [RefSeq]; Atypical chemokine receptor that regulates chemokine levels and localization through chemokine binding, independently of activating classical ligand-induced signaling pathways such as G protein activation and Ca(2+) mobilization (PubMed:33875597, PubMed:35013216, PubMed:37554323, PubMed:38026988). Instead, it mediates chemokine sequestration, transport, or internalization to control their availability (PubMed:33875597, PubMed:35013216, PubMed:37554323, PubMed:38026988). Acts as a scavenger for a broad range of chemokines from CXC, CC and XC chemokine ligand families including CXCL9, CXCL10, CXCL12, CXCL13, CXCL11, CXCL14, CCL1, CCL11, CCL19, CCL25, CCL28 and XCL1 (PubMed:33875597, PubMed:35013216, PubMed:38026988). Is the only atypical receptor for chemokines CXCL13 and CCL28 (PubMed:37554323). Has a strong constitutive association with beta-arrestins, which is essential for intracellular receptor trafficking and chemokine scavenging, and occurs independently of ligand binding (PubMed:33875597, PubMed:37554323). Cooperates with ACKR3 and ACKR4 in regulating serum levels of CXCL12 and CCL19, respectively (PubMed:37554323). Acts as an important modulator of cellular immunity (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; GPR182 is an endothelium-specific atypical chemokine receptor that maintains hematopoietic stem cell homeostasis., [RefSeq, PubMed]; GPR182 limits antitumor immunity via chemokine scavenging in mouse melanoma models. Publication Status: Online-Only, [RefSeq, PubMed]; This putative G protein-coupled receptor remains an orphan, as the ability to bind and be activated by adrenomedullin has been refuted. A complex of CRLR and RAMP2 or RAMP3 gives a functional adrenomedullin receptor., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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:0004888 transmembrane signaling receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0019957 C-C chemokine binding;GO:0019958 C-X-C chemokine binding", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0010008 endosome membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "O15218-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PII5-1", "uniprot_id": [ { "id": "HAGHL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PII5", "type": "external" } ], "mass": 31557.0, "length": 290, "protein_name": "Hydroxyacylglutathione hydrolase-like protein", "gene_name": "HAGHL", "organism": "Human", "refseq_name": "hydroxyacylglutathione hydrolase-like protein isoform 2", "refseq_ac": [ { "id": "NP_001277066", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277066", "type": "external" } ], "gene_names_uniprotkb": "HAGHL", "gene_names_refseq": "HAGHL", "protein_names_uniprotkb": "Hydroxyacylglutathione hydrolase-like protein; 3.1.2.-", "protein_names_refseq": "GLO2-like/ RJD12; hydroxyacylglutathione hydrolase-like protein isoform 2; hydroxyacylglutathione hydrolase-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84264)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;20237496;23481700;24715725;25576301;26992070;27600516;27846572;28228285;28832583;28834231;28904123;29242379;29331515;29508533;29557506;30315122;30429286;31154438;31222486;31844290;31848261;31998317;32157095;32488085;32502341;32897882;32938616;32983136;34932366;35051231;35580925;36417085;37938771;39894887", "class_list": "", "function": "Hydrolase acting on ester bonds., [UniProtKB]; Identification of HAGHL as a novel metabolic oncogene regulating human colorectal cancer progression., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A6NCC4;D3DU64;Q59FX8;Q96BZ3;Q96NR5;Q96S11;Q9BT45", "ec_number_list": [], "go_molecular_function": "GO:0004416 hydroxyacylglutathione hydrolase activity;GO:0046872 metal ion binding;GO:0016787 hydrolase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q6PII5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DB9-1", "uniprot_id": [ { "id": "FXYD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DB9", "type": "external" } ], "mass": 19472.0, "length": 178, "protein_name": "FXYD domain-containing ion transport regulator 5", "gene_name": "FXYD5", "organism": "Human", "refseq_name": "FXYD domain-containing ion transport regulator 5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001158077", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158077", "type": "external" } ], "gene_names_uniprotkb": "FXYD5; DYSAD; HSPC113; IWU1; PRO6241", "gene_names_refseq": "DYSAD; FXYD5; HSPC113; IWU1; KCT1; OIT2; PRO6241; RIC", "protein_names_uniprotkb": "FXYD domain-containing ion transport regulator 5; Dysadherin", "protein_names_refseq": "FXYD domain-containing ion transport regulator 5 isoform 1 precursor; dysadherin; keratinocytes associated transmembrane protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:53827)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11237011;11342114;11756660;12970317;12975309;15102690;18263667;23584533;25576301;25813380;26154972;26992070;27862975;28467828;28904123;29242379;29314611;29557506;29774024;30429286;30459171;31154438;31222486;31746425;31844290;31998317;32350084;32373127;32488085;32983136;33043033;33091337;33392160;33592498;33912179;33936100;33968037;34932366;35154160;35251023;35580925;35673579;35705054;35977595;36284347;36982661;37938771;38725858", "class_list": "", "function": "A FXYD5/TGFbeta/SMAD positive feedback loop drives epithelialtomesenchymal transition and promotes tumor growth and metastasis in ovarian cancer., [RefSeq, PubMed]; Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. May increase NKA activity by increasing the apparent affinity for Na(+). Involved in down-regulation of E-cadherin which results in reduced cell adhesion. Promotes metastasis., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]; Dysadherin awakens mechanical forces and promotes colorectal cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Dysadherin expression was significantly associated with the prognosis, occurrence of secondary undifferentiated carcinomas, size of the primary tumor, and metastasis to the regional lymph nodes and lungs, [RefSeq, PubMed]; Dysadherin has a role in hematogenous metastasis of gastric cancer Erratum:[Clin Cancer Res. 2004 Jun 15;10(12 Pt 1):4198], [RefSeq, PubMed]; FXYD5 promotes sorafenib resistance through the Akt/mTOR signaling pathway in hepatocellular carcinoma., [RefSeq, PubMed]; High-Intensity Training Represses FXYD5 and Glycosylates Na,K-ATPase in Type II Muscle Fibres, Which Are Linked with Improved Muscle K[+] Handling and Performance. Publication Status: Online-Only, [RefSeq, PubMed]; The dysadherin/FAK axis promotes individual cell migration in colon cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009]., [RefSeq]; We report the cloning and characterization of a cancer-associated cell membrane glycoprotein recognized by mAb NCC-3G10., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B7WNZ8;Q6UW44;Q9HC34;Q9P039", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0017080 sodium channel regulator activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0030033 microvillus assembly;GO:0046588 negative regulation of calcium-dependent cell-cell adhesion;GO:0006883 intracellular sodium ion homeostasis;GO:0010248 establishment or maintenance of transmembrane electrochemical gradient;GO:0030007 intracellular potassium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q96DB9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D1E9-1", "uniprot_id": [ { "id": "GTPBA_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D1E9", "type": "external" } ], "mass": 42933.0, "length": 387, "protein_name": "GTP-binding protein 10", "gene_name": "GTPBP10", "organism": "Human", "refseq_name": "GTP-binding protein 10 isoform 1", "refseq_ac": [ { "id": "NP_001036182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036182", "type": "external" } ], "gene_names_uniprotkb": "GTPBP10; OBGH2; UG0751c10", "gene_names_refseq": "GTPBP10; ObgH2; UG0751c10", "protein_names_uniprotkb": "GTP-binding protein 10; ObgH2; Protein obg homolog 2", "protein_names_refseq": "GTP binding protein 10 (putative); GTP-binding protein 10 isoform 1; protein obg homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:85865)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;17054726;20068231;25576301;27846572;27869121;27920218;28510447;28832583;28904123;29242379;30085210;30192525;30321378;30524438;31154438;31844290;32157095;32357974;32897882;32938616;32983136;33298915;33537174;33592498;33912179;33936100;33968037;33981976;34087483;34185709;34357683;34932366;35580925;37938771", "class_list": "", "function": "GTPBP10 primarily ensures proper mtLSU maturation and ultimately serves to coordinate mtSSU and mtLSU accumulation, [RefSeq, PubMed]; Knock-down of ObgH1 by RNAi induced mitochondria elongation, whereas knock-down of ObgH2 resulted in the disorganization of the nucleolar architecture., [RefSeq, PubMed]; May be involved in the ribosome maturation process. Complements an ObgE(CgtA) function in E.coli ribosome maturation. Plays a role of GTPase in vitro. When missing, disorganization of the nucleolar architecture is observed., [UniProtKB, PubMed]; Our results suggest that GTPBP10 is a ribosome biogenesis factor of the mtLSU required for late stages of maturation., [RefSeq, PubMed]; Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "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": "B4DFY6;Q3B7A6;Q5H9V2;Q8IXG8;Q8N982;Q8WU16;Q9BSP1;Q9Y6T6", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019843 rRNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005694 chromosome", "go_biological_process": "GO:1902775 mitochondrial large ribosomal subunit assembly;GO:0042254 ribosome biogenesis", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "A4D1E9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04259-1", "uniprot_id": [ { "id": "K2C6B_HUMAN", "url": "https://www.uniprot.org/uniprot/P04259", "type": "external" } ], "mass": 60067.0, "length": 564, "protein_name": "Keratin, type II cytoskeletal 6B", "gene_name": "KRT6B", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 6B", "refseq_ac": [ { "id": "NP_005546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005546", "type": "external" } ], "gene_names_uniprotkb": "KRT6B; K6B; KRTL1", "gene_names_refseq": "CK-6B; CK6B; K6B; KRT6B; KRTL1; PC2; PC4", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 6B; CK-6B; Cytokeratin-6B; K6B; Keratin-6B; Type-II keratin Kb10", "protein_names_refseq": "cytokeratin 6B; keratin 6B, type II; keratin, epidermal, type II, K6B; keratin, type II cytoskeletal 6B; keratin-like 1 (a type II keratin sequence); type-II keratin Kb10", "tax_id": 9606, "disease": "pachyonychia congenita (Disease Ontology:DOID:0050449); pachyonychia congenita 4 (MONDO:MONDO:0014325)", "pathway": " (hsa:3854); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;1286667;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16250206;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21326300;21439340;21654840;21997417;23481192;23629652;2410904;2414304;25208914;25926655;26375851;26390218;26464664;26853435;29357356;29587848;31154438;31844290;32157095;32387766;32938616;33968037;34019948;34171305;34211107;35051231;35580925;36241641;37938771;38165426;38665916;41018975;7543090;7543104;8824274;8999895;9395522;9468612;9565599;9618173", "class_list": "", "function": "Data indicate that cytokeratin 5/6 (CK5/6) is an independent prognostic biomarker in urothelial carcinoma and therefore can be used in the prognostic stratification of the patients with bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; PDE3B regulates KRT6B and increases the sensitivity of bladder cancer cells to copper ionophores., [RefSeq, PubMed]; Several missense polymorphisms in KRT6A, KRT6B and KRT6C that lead to a higher risk for dental caries. Erratum:[PLoS Genet. 2019 Jun 24;15(6):e1008230. doi: 10.1371/journal.pgen.1008230. PMID: 31233495] Publication Status: Online-Only, [RefSeq, PubMed]; Structural component of intermediate filaments in epithelial keratinocytes. Forms heteropolymers with the type I keratins KRT16 and KRT17, assembling keratin intermediate filament networks that contributes to the structural integrity and stress resilience of stratified epithelia and appendages (PubMed:9618173). Induced during epidermal stress and wound repair, where it regulates keratinocyte migration and epithelial regeneration (By similarity). Negatively regulates collective keratinocyte migration by stabilizing non-muscle myosin MYH9 and desmoplakin, thereby altering cell-cell and cell-matrix adhesion and reducing the speed and directionality of epithelial sheet movement during wound repair (By similarity). Required for normal palmoplantar, nail unit and oral mucosa integrity (PubMed:9618173)., [UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]., [RefSeq]; These results suggested that the upregulation of notch1 and KRT6B might be involved in the development, progression and prognosis of human renal cell carcinoma Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "P48669", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0045095 keratin filament", "go_biological_process": "GO:0031424 keratinization;GO:0007398 ectoderm development;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P04259-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57077-4", "uniprot_id": [ { "id": "M3KCL_HUMAN", "url": "https://www.uniprot.org/uniprot/P57077", "type": "external" } ], "mass": 16372.0, "length": 142, "protein_name": "MAP3K7 C-terminal-like protein", "gene_name": "MAP3K7CL", "organism": "Human", "refseq_name": "MAP3K7 C-terminal-like protein isoform 2", "refseq_ac": [ { "id": "NP_001273546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273546", "type": "external" } ], "gene_names_uniprotkb": "MAP3K7CL; C21orf7; TAK1L", "gene_names_refseq": "C21orf7; HC21ORF7; MAP3K7CL; TAK1L; TAKL-1; TAKL-2; TAKL-4; TAKL", "protein_names_uniprotkb": "MAP3K7 C-terminal-like protein; TAK1-like protein", "protein_names_refseq": "MAP3K7 C-terminal-like protein isoform 2; MAP3K7 C-terminal-like protein; TAK1-like protein 1; TAK1-like protein 2; TAK1-like protein 4; TGF-beta activated kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:56911)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11707072;14759258;15168726;27920218;29393594;31154438;32401115;32938616;32983136;33592498;35494241", "class_list": "", "function": "Genome-wide identification of lncRNAs and mRNAs differentially expressed in human vascular smooth muscle cells stimulated by high phosphorus., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "D3DSE0;Q8TCL9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P57077-4", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04264-1", "uniprot_id": [ { "id": "K2C1_HUMAN", "url": "https://www.uniprot.org/uniprot/P04264", "type": "external" } ], "mass": 66039.0, "length": 644, "protein_name": "Keratin, type II cytoskeletal 1", "gene_name": "KRT1", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 1", "refseq_ac": [ { "id": "NP_006112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006112", "type": "external" } ], "gene_names_uniprotkb": "KRT1; KRTA", "gene_names_refseq": "AEI2; CK1; EHK1; EHK; EPPK; K1; KRT1A; KRT1; NEPPK", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 1; 67 kDa cytokeratin; CK-1; Cytokeratin-1; Hair alpha protein; K1; Keratin-1; Type-II keratin Kb1", "protein_names_refseq": "67 kDa cytokeratin; CK-1; cytokeratin 1; epidermolytic hyperkeratosis 1; hair alpha protein; keratin 1, type II; keratin, type II cytoskeletal 1; type-II keratin Kb1", "tax_id": 9606, "disease": "KRT1-related nonepidermolytic palmoplantar keratoderma (Disease Ontology:DOID:0070550); epidermolytic palmoplantar keratoderma 2 (Disease Ontology:DOID:0070551); keratosis palmoplantaris striata 3 (Disease Ontology:DOID:0081110); epidermolytic hyperkeratosis 1 (Disease Ontology:DOID:0081358); epidermolytic hyperkeratosis (Disease Ontology:DOID:4603); ichthyosis hystrix of Curth-Macklin (MONDO:MONDO:0007808); ichthyosis, annular epidermolytic, 2 (MONDO:MONDO:0859574)", "pathway": " (hsa:3848); (R-HSA-6798695); (R-HSA-6805567); (R-HSA-6809371); (R-HSA-9725554); (R-HSA-9855719); (R-HSA-9970672)", "pathway_count": 7, "publication_count": 232, "publication_id_list": "10.1021/acs.analchem.6b02887;10053007;10066784;10196183;10231017;10232403;10411887;10588656;10597140;1066663;10688370;10771479;10844506;10903910;11204562;11286616;11286630;11350120;11380615;11531804;11590230;11830581;11841545;11982762;11986212;12067728;12406346;12406348;12624109;12665801;1281859;12902340;12944405;1380725;1381288;14654843;14691562;15033990;15140226;15234001;15337775;15373777;15556625;15675955;15780751;15797384;15803139;16061697;16297201;16382671;16529377;16565220;16639001;1691188;16923132;1694855;1714783;17287340;17330888;17515931;17521629;17562024;17596512;17924679;17956333;18452278;18602030;18691976;18843291;19007248;19190773;19194479;19412582;19690332;19924134;20068231;20166139;20179351;20657595;20667819;20707881;20940292;21271994;21304106;21439340;21544310;21654840;21683246;21997417;22121020;22661428;22735594;22898188;23271734;23283814;23481192;23629652;23650620;23783831;23895828;24029068;2414304;24397554;24714562;24794495;24940650;25102056;25208914;25505266;25645385;2578463;2579948;2580302;2581964;25926655;26340985;26375851;26390218;26853435;26992070;27452731;27595935;27600516;27726376;27862975;27920218;28035807;28218747;28228285;28411811;28467828;28510447;28649982;28834231;28855257;28935714;29314611;29351928;29391424;29393594;29493099;29508533;29519898;29557506;29632711;29786170;30315122;30410026;30429286;30524438;30779550;30833945;30905808;3099750;31154438;31399284;31611695;31844290;32157095;32161166;32162841;32179842;32350084;32357974;32373127;32387766;32488085;32897882;32938616;32983136;33043033;33091337;33214551;33298915;33912179;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34433824;34561969;3484703;35051231;35083852;35154160;35289036;35561310;35580925;36010968;36215666;36231117;36241641;37122192;37170713;37217939;3756141;37938771;38019813;38380604;38665916;3877053;3886654;39534244;4054110;40596516;4178758;4703226;500690;6203908;6604055;7391081;7507151;7507152;7512983;7528239;7543090;8195709;8692836;8710908;874082;8780679;8824274;8999895;9395522;9427705;9468612;9565599;9856846", "class_list": "", "function": "Associations of serum keratin 1 with thyroid function and immunity in Graves' disease. Erratum:[PLoS One. 2025 Oct 24;20(10):e0335428. doi: 10.1371/journal.pone.0335428. PMID: 41134742] Publication Status: Online-Only, [RefSeq, PubMed]; Human cytokeratin 1 plays a role in the interaction of Pteropine orthoreovirus with Hek293 cells but not HeLa cells., [RefSeq, PubMed]; Structural component of intermediate filaments in suprabasal keratinocytes of stratified epithelia. Forms heteropolymers with a type I keratin, assembling into keratin intermediate filament networks that provide mechanical strength and structural stability to differentiating epidermal cells (PubMed:1381288). May regulate the activity of kinases such as PKC and SRC by interacting with integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1) (PubMed:17956333, PubMed:21544310). In complex with C1QBP, acts as a high-affinity receptor for kininogen-1 (HMWK) (PubMed:21544310)., [UniProtKB, PubMed, PubMed, PubMed]; The Adhesion G-Protein-Coupled Receptor GPR115/ADGRF4 Regulates Epidermal Differentiation and Associates with Cytoskeletal KRT1. Erratum:[Cells. 2023 Jun 21;12(13):1677. doi: 10.3390/cells12131677. PMID: 37443844] Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]., [RefSeq]; Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 2, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 7, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2RA01;P85925;P86104;Q14720;Q6GSJ0;Q9H298", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0030246 carbohydrate binding;GO:0038023 signaling receptor activity;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0031424 keratinization;GO:0042730 fibrinolysis;GO:0051290 protein heterotetramerization;GO:0045765 regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 24.6, "record_id": "P04264-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48668-1", "uniprot_id": [ { "id": "K2C6C_HUMAN", "url": "https://www.uniprot.org/uniprot/P48668", "type": "external" } ], "mass": 60025.0, "length": 564, "protein_name": "Keratin, type II cytoskeletal 6C", "gene_name": "KRT6C", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 6C", "refseq_ac": [ { "id": "NP_775109", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775109", "type": "external" } ], "gene_names_uniprotkb": "KRT6C; KRT6E", "gene_names_refseq": "K6E; KRT6C; KRT6E; PPKNEFD", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 6C; CK-6C; CK-6E; Cytokeratin-6C; Cytokeratin-6E; K6C; Keratin K6h; Keratin-6C; Type-II keratin Kb12", "protein_names_refseq": "CK-6C; CK-6E; K6C; cytokeratin-6C; cytokeratin-6E; keratin 6C, type II; keratin 6E; keratin K6h; keratin, type II cytoskeletal 6C; type-II keratin Kb12", "tax_id": 9606, "disease": "focal or diffuse nonepidermolytic palmoplantar keratoderma (Disease Ontology:DOID:0111710)", "pathway": " (hsa:286887); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;11683385;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18452278;18843291;19190773;19194479;19609311;20179351;20363977;20657595;20667819;20940292;21439340;21654840;21801157;21997417;23481192;23629652;23662636;2414304;25208914;25926655;26301947;26390218;26853435;29357356;29557506;31611695;31768767;33214551;34171305;34357683;35051231;37217939;41018975;7543090;7543104;8824274;8999895;9054461;9395522;9468612;9565599", "class_list": "", "function": "KRT6C was highly expressed in lung adenocarcinoma (LUAD) patients. The relevance between high expression of KRT6C and poor prognosis of LUAD patients was found in this study., [RefSeq, PubMed]; Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009]., [RefSeq]; Report on a novel mutation of KRT6C and highlight the inclusion of focal PPK secondary to KRT16 and KRT6C mutations as a milder phenotype within the spectrum of PC, [RefSeq, PubMed]; Several missense polymorphisms in KRT6A, KRT6B and KRT6C that lead to a higher risk for dental caries. Erratum:[PLoS Genet. 2019 Jun 24;15(6):e1008230. doi: 10.1371/journal.pgen.1008230. PMID: 31233495] Publication Status: Online-Only, [RefSeq, PubMed]; Structural component of intermediate filaments in epithelial keratinocytes. Forms heteropolymers with the type I keratins, likely including KRT16 and KRT17, assembling keratin intermediate filament networks that contributes to the structural framework and mechanical resilience of stratified epithelia, particularly in palmoplantar 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L4L5;P48666;Q2TAZ9;Q7RTN9", "ec_number_list": [], "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005882 intermediate filament;GO:0045095 keratin filament", "go_biological_process": "GO:0031424 keratinization;GO:0045109 intermediate filament organization;GO:0045104 intermediate filament cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P48668-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12035-1", "uniprot_id": [ { "id": "K2C3_HUMAN", "url": "https://www.uniprot.org/uniprot/P12035", "type": "external" } ], "mass": 64417.0, "length": 628, "protein_name": "Keratin, type II cytoskeletal 3", "gene_name": "KRT3", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 3", "refseq_ac": [ { "id": "NP_476429", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_476429", "type": "external" } ], "gene_names_uniprotkb": "KRT3", "gene_names_refseq": "CK3; K3; KRT3; MECD2", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 3; 65 kDa cytokeratin; CK-3; Cytokeratin-3; K3; Keratin-3; Type-II keratin Kb3", "protein_names_refseq": "65 kDa cytokeratin; CK-3; cytokeratin 3; keratin 3, type II; keratin, type II cytoskeletal 3; type-II keratin Kb3", "tax_id": 9606, "disease": "Meesmann corneal dystrophy 2 (Disease Ontology:DOID:0080671)", "pathway": " (hsa:3850); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15373777;15737194;15797384;15803139;16061697;16227835;16382671;16639001;16807696;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23481700;23569037;23629652;2414304;2439698;25208914;25645385;25926655;26390218;26853435;26899008;29162348;29557506;31217245;31611695;31844290;32357974;32488085;33346999;33968037;34087483;34171305;35051231;35580925;36010968;37217939;37938771;7543090;8759347;8824274;8999895;9171831;9395522;9468612;9565599", "class_list": "", "function": "Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report., [RefSeq, PubMed]; Exon sequencing of KRT3 and KRT12 in six affected and eight unaffected individuals did not detect any mutations or nucleotide sequence variants in Meesmann epithelial corneal dystrophy., [RefSeq, PubMed]; RT-PCR showed that K3 and K12 transcripts were absent from patient cells, but present in healthy control preparations., [RefSeq, PubMed]; Structural component of intermediate filaments in the corneal epithelium. Forms heteropolymers with the type I keratin KRT12, assembling into keratin intermediate filament networks that provide mechanical strength and structural integrity to the corneal epithelial layer., [UniProtKB, PubMed]; The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann's Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]., [RefSeq]; We show that the two PAX6 isoforms differentially and cooperatively regulate the expression of genes specific to the structure and functions of the corneal epithelium, particularly keratin 3 (KRT3) and keratin 12 (KRT12). PAX6 isoform-a induced KRT3 expression by targeting its upstream region. KLF4 enhanced this induction. A combination of PAX6 isoform-b, KLF4, and OCT4 induced KRT12 expression Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NIS2;Q701L8", "ec_number_list": [], "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005882 intermediate filament;GO:0045095 keratin filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0031424 keratinization;GO:0045109 intermediate filament organization;GO:0045104 intermediate filament cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P12035-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60828-1", "uniprot_id": [ { "id": "PQBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60828", "type": "external" } ], "mass": 30472.0, "length": 265, "protein_name": "Polyglutamine-binding protein 1", "gene_name": "PQBP1", "organism": "Human", "refseq_name": "polyglutamine-binding protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001027553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027553", "type": "external" } ], "gene_names_uniprotkb": "PQBP1; JM26; NPW38", "gene_names_refseq": "MRX2; MRX55; MRXS3; MRXS8; NPW38; PQBP1; RENS1; SHS", "protein_names_uniprotkb": "Polyglutamine-binding protein 1; 38 kDa nuclear protein containing a WW domain; Npw38; PQBP-1; Polyglutamine tract-binding protein 1", "protein_names_refseq": "38 kDa nuclear protein containing a WW domain; polyglutamine tract-binding protein 1; polyglutamine-binding protein 1 isoform 1", "tax_id": 9606, "disease": "Renpenning syndrome (Disease Ontology:DOID:0060179)", "pathway": " (hsa:10084); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 151, "publication_id_list": "10198427;10332029;10873650;10882114;11014198;11101529;11163963;11233976;11237011;11747608;11991638;12062018;12176931;12411573;12414731;12477934;14519844;14625303;14634649;14713954;14762106;15084397;16314458;16740914;16809785;16959974;17095540;17332742;17606899;18322460;18593880;18669648;19103666;19165350;19303059;19536130;20068231;20410308;20423332;20980672;21315190;21536652;2176635;21911577;21933836;22110043;22365833;22959432;22961380;23222130;23236153;23345524;23481700;23512658;24196718;24304693;24448447;24715725;24737827;24781215;24914973;25418920;25555158;2558966;25645385;25810538;26046437;26092250;26154972;26385511;26420826;26637798;26969736;26992070;27108190;27314904;27377154;27397612;27459055;27683217;27846572;27862975;28062851;28076346;28218747;28502770;28510447;28514659;28627366;28781166;28904123;29301961;29360106;29361316;29437277;29485866;29557506;2963332;29902443;30315122;30315277;30379171;30429286;30599162;30705154;30728453;30765414;30975767;31154438;31373491;31409651;31844290;32157095;32179686;32329775;32494006;32502341;33141586;33177556;33214551;33243851;33298915;33446560;33592498;33936100;34019948;34211107;34301950;34782623;34822310;35051231;35215846;35254053;35385551;35682906;36815699;37217939;3757028;38342602;40596516;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529;9875212", "class_list": "", "function": "Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species (PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery (PubMed:10198427). May be involved in ATXN1 mutant-induced cell death (PubMed:12062018). The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit (PubMed:12062018). Involved in the assembly of cytoplasmic stress granule, possibly by participating in the transport of neuronal RNA granules (PubMed:21933836). Also acts as an innate immune sensor of infection by retroviruses, such as HIV, by detecting the presence of reverse-transcribed DNA in the cytosol (PubMed:26046437). Directly binds retroviral reverse-transcribed DNA in the cytosol and interacts with CGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production (PubMed:26046437)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression., [RefSeq, PubMed]; Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; The role of PQBP1 in neural development and function. Review article, [RefSeq, PubMed]; This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 9, "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": "C9JQA1;Q4VY25;Q4VY26;Q4VY27;Q4VY29;Q4VY30;Q4VY34;Q4VY35;Q4VY36;Q4VY37;Q4VY38;Q9GZP2;Q9GZU4;Q9GZZ4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0043021 ribonucleoprotein complex binding;GO:0003690 double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0016604 nuclear body", "go_biological_process": "GO:0071360 cellular response to exogenous dsRNA;GO:0006351 DNA-templated transcription;GO:0031175 neuron projection development;GO:0045087 innate immune response;GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "O60828-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15465-1", "uniprot_id": [ { "id": "SHH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15465", "type": "external" } ], "mass": 49607.0, "length": 462, "protein_name": "Sonic hedgehog protein", "gene_name": "SHH", "organism": "Human", "refseq_name": "sonic hedgehog protein isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_000184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000184", "type": "external" } ], "gene_names_uniprotkb": "SHH", "gene_names_refseq": "HHG1; HLP3; HPE3; MCOPCB5; SHH; SMMCI; ShhNC; TPTPS; TPT", "protein_names_uniprotkb": "Sonic hedgehog protein; 3.1.-.-; HHG-1; SHH; Shh N-terminal processed signaling domains; Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains; ShhNC; ShhNp", "protein_names_refseq": "SHH signaling molecule; shh unprocessed N-terminal signaling and C-terminal autoprocessing domains; sonic hedgehog homolog; sonic hedgehog protein isoform 1 preproprotein", "tax_id": 9606, "disease": "primary bacterial infectious disease (Disease Ontology:DOID:0050338); primary progressive multiple sclerosis (Disease Ontology:DOID:0050784); autism spectrum disorder (Disease Ontology:DOID:0060041); pre-malignant neoplasm (Disease Ontology:DOID:0060071); preaxial polydactyly II (Disease Ontology:DOID:0060986); esophageal atresia/tracheoesophageal fistula (Disease Ontology:DOID:0080171); Parkinsonism (Disease Ontology:DOID:0080855); holoprosencephaly 3 (Disease Ontology:DOID:0110875); Laurin-Sandrow syndrome (Disease Ontology:DOID:0111350); solitary median maxillary central incisor (Disease Ontology:DOID:0111380); hypoplastic or aplastic tibia with polydactyly (Disease Ontology:DOID:0111564); syndactyly type 4 (Disease Ontology:DOID:0111818); Hirschsprung's disease (Disease Ontology:DOID:10487); stomach cancer (Disease Ontology:DOID:10534); membranous glomerulonephritis (Disease Ontology:DOID:10976); polydactyly (Disease Ontology:DOID:1148); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); biliary atresia (Disease Ontology:DOID:13608); hypothyroidism (Disease Ontology:DOID:1459); VACTERL association (Disease Ontology:DOID:14679); transient cerebral ischemia (Disease Ontology:DOID:224); multiple sclerosis (Disease Ontology:DOID:2377); nevoid basal cell carcinoma syndrome (Disease Ontology:DOID:2512); basal cell carcinoma (Disease Ontology:DOID:2513); IgA glomerulonephritis (Disease Ontology:DOID:2986); temporal lobe epilepsy (Disease Ontology:DOID:3328); middle cerebral artery infarction (Disease Ontology:DOID:3525); holoprosencephaly (Disease Ontology:DOID:4621); myocardial infarction (Disease Ontology:DOID:5844); chronic kidney disease (Disease Ontology:DOID:784); gastrointestinal stromal tumor (Disease Ontology:DOID:9253); colorectal cancer (Disease Ontology:DOID:9256); ocular hypertension (Disease Ontology:DOID:9282); microphthalmia, isolated, with coloboma 5 (MONDO:MONDO:0012709); triphalangeal thumb-polysyndactyly syndrome (MONDO:MONDO:0017454)", "pathway": " (hsa:6469); (R-HSA-373080); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5362798); (R-HSA-5632681); (R-HSA-5632684); (R-HSA-5635838); (R-HSA-5658034); (R-HSA-9758920); (R-HSA-9796292); (R-HSA-9937080)", "pathway_count": 12, "publication_count": 248, "publication_id_list": "10050855;10097073;10433824;10441331;10505029;10556296;10564661;10619433;10753901;10966113;10984056;11017805;11027307;11237011;11297558;11471164;11479728;11486055;11841368;11919111;11960000;12015973;12050670;12068298;12098667;12123571;12138125;12372301;12426310;12503095;12559132;12567406;12569124;12709790;12837695;14528312;14611647;14614827;14636583;15019948;15075292;15103725;15107988;15110707;15115751;15163793;15198976;15221788;15292211;15294024;15300262;15356051;15498814;15618519;15647319;15691767;15942952;15942953;15963974;16061793;16136078;16155214;16282375;16335952;16390857;16421275;16459297;16459298;16602827;16611729;16611981;16630821;16647304;16651542;16740475;16908539;16980583;17001669;17086203;17115028;17126548;17210683;17442700;17504940;17504941;17507410;17609110;17641202;17960137;17967162;18264092;18417549;18455992;18477453;18497258;18502753;18534984;18559595;18655123;18711132;18794898;18801728;18815277;18827223;18832070;19002207;19081070;19176481;19196978;19218434;19305393;19346256;19365551;19368795;19371734;19478089;19533801;19549984;19561609;19561611;19592253;19603532;19622347;19666503;19684112;19818708;19847792;19852954;19878745;19948480;19955409;19996169;20014402;20016067;20104595;20154143;20360384;20412775;20425842;20460306;20487519;20504762;20512148;20519495;20585641;20643644;20818436;20844013;20844016;20889716;20956384;20966082;21257310;21339334;21356043;21357747;21659505;21664575;21664576;21664577;21695114;21741376;21801010;21802063;21816240;21842183;21878643;22007132;22277298;22326621;22391301;22467855;22609552;22677548;22902404;22981989;22982193;22986504;23026747;23112049;23118222;23154980;23332756;23481700;23719536;23725801;23867461;23867465;23877428;23900540;23955340;24072710;24302888;24342078;24456159;24522195;24582806;24784881;24845016;24854174;24863049;24925320;24965254;26875496;29557506;29954986;29995851;30139912;31127104;31548691;31555730;31840817;31875564;34087483;34112694;35051231;35231446;3616618;38062245;38307877;38558491;38562108;6950381;7590746;7720571;7797535;7885476;7985023;8082781;8198617;8386612;8397094;8557170;8612563;8689684;8732687;8770894;8824192;8896571;8896572;8898207;8906787;8906794;9064337;9302262;9593755;9601642;9874371", "class_list": "glycogene", "function": "Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth., [RefSeq, PubMed]; Phosphorylation of human glioma-associated oncogene 1 on Ser937 regulates Sonic Hedgehog signaling in medulloblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Precursor of sonic hedgehog, a morphogen that activates the smoothened signaling pathway, and which is essential for a variety of patterning events during development (PubMed:29954986, PubMed:29995851, PubMed:30139912, PubMed:31127104, PubMed:31548691). 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, Sonic hedgehog protein N-product and C-product (ShhN and ShhC, respectively) and (2) covalent attachment of a cholesterol moiety to the C-terminus of the newly generated ShhN (By similarity). Both autoproteolysis and a cholesterol transferase activities occur in the endoplasmic reticulum (By similarity). Following additional lipidation, ShhN acts as a morphogen, while ShhC is degraded in the endoplasmic reticulum (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; SALL4 is a CRL3[REN/KCTD11] substrate that drives Sonic Hedgehog-dependent medulloblastoma., [RefSeq, PubMed]; The dually lipidated sonic hedgehog protein N-product (ShhN) is a morphogen that activates the smoothened signaling pathway, and which is essential for a variety of patterning events during development (PubMed:10753901, PubMed:24522195, PubMed:24863049, PubMed:29995851, PubMed:30139912, PubMed:31127104, PubMed:31548691, PubMed:31555730). 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:10753901, PubMed:29995851, PubMed:31548691, PubMed:31555730). In the absence of SHH, patched represses the constitutive signaling activity of SMO (PubMed:10753901). ShhN is widely expressed and plays a key role in the patterning of the central nervous system and limb development (By similarity). Induces ventral cell fate in the neural tube and somites (By similarity). Involved in the patterning of the anterior-posterior axis of the developing limb bud (By similarity). Essential for axon guidance (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is 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 developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008]., [RefSeq]; Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 10, "reported_glycation": 0, "reported_snv": 649, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 35, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D247;Q75MC9", "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:0004175 endopeptidase activity;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0008233 peptidase activity;GO:0016015 morphogen activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0043369 CD4-positive or CD8-positive, alpha-beta T cell lineage commitment;GO:0001708 cell fate specification;GO:0045880 positive regulation of smoothened signaling pathway;GO:0003140 determination of left/right asymmetry in lateral mesoderm;GO:0007418 ventral midline development", "synthesized_glycan_count": 0, "hit_score": 25.0, "record_id": "Q15465-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPU9-1", "uniprot_id": [ { "id": "SMAG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPU9", "type": "external" } ], "mass": 79415.0, "length": 718, "protein_name": "Protein Smaug homolog 1", "gene_name": "SAMD4A", "organism": "Human", "refseq_name": "protein Smaug homolog 1 isoform 2", "refseq_ac": [ { "id": "NP_001155048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155048", "type": "external" } ], "gene_names_uniprotkb": "SAMD4A; KIAA1053; SAMD4; SMAUG1", "gene_names_refseq": "SAMD4A; SAMD4; SMAUG1; SMAUG; SMGA; SMG", "protein_names_uniprotkb": "Protein Smaug homolog 1; SAM domain-containing protein 4A; Smaug 1; Sterile alpha motif domain-containing protein 4A; hSmaug1", "protein_names_refseq": "SAM domain-containing protein 4A; protein Smaug homolog 1 isoform 2; protein Smaug homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23034)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;16221671;18669648;22201125;23186163;24715725;25576301;25645385;26992070;27600516;27846572;27920218;28834231;29242379;29393594;29485866;29786170;30315122;30379171;30429286;31844290;32157095;32357974;32897882;32938616;32983136;33592498;33912179;33968037;33981976;34019948;34080649;34219323;34357683;34725712;35051231;35580925;36010968;36284347;37515967;37523566;37938771;38665916", "class_list": "", "function": "Acts as a translational repressor of SRE-containing messengers., [UniProtKB, PubMed]; CircSAMD4A participates in the apoptosis and autophagy of dopaminergic neurons via the miR29c3pmediated AMPK/mTOR pathway in Parkinson's disease., [RefSeq, PubMed]; RNA-binding protein SAMD4A inhibits breast tumor angiogenesis by modulating the balance of angiogenesis program., [RefSeq, PubMed]; SAMD4A serves as a negative prognostic marker for gastric cancer patients., [RefSeq, PubMed]; Smaug 1 has a role in RNA granule formation and translation regulation in neurons, [RefSeq, PubMed]; Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]., [RefSeq]; Structural basis for binding of Drosophila Smaug to the GPCR Smoothened and to the germline inducer Oskar., [RefSeq, PubMed]; The Smaug1 is expressed during synaptogenesis, and Smaug1 knockdown affected the number and size of synapses, and also provoked an impaired response to repetitive depolarizing stimuli, as indicated by a reduced induction of Arc/Arg3.1., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MPZ5;Q0VA96;Q6PEW4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0030371 translation repressor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0030425 dendrite;GO:0045202 synapse;GO:0000932 P-body", "go_biological_process": "GO:0045727 positive regulation of translation;GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9UPU9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VWG9-1", "uniprot_id": [ { "id": "TAF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VWG9", "type": "external" } ], "mass": 103582.0, "length": 929, "protein_name": "Transcription initiation factor TFIID subunit 3", "gene_name": "TAF3", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 3", "refseq_ac": [ { "id": "NP_114129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114129", "type": "external" } ], "gene_names_uniprotkb": "TAF3", "gene_names_refseq": "TAF140; TAF3; TAFII-140; TAFII140", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 3; 140 kDa TATA box-binding protein-associated factor; TAF(II)140; TAF140; TAFII-140; TAFII140; TBP-associated factor 3; Transcription initiation factor TFIID 140 kDa subunit", "protein_names_refseq": "140 kDa TATA box-binding protein-associated factor; RNA polymerase II transcription factor TAFII140; TAF(II)140; TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa; TBP-associated factor 3; transcription initiation factor TFIID 140 kDa subunit; transcription initiation factor TFIID subunit 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:83860); (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": 116, "publication_id_list": "10024882;10199401;10435622;10500146;10570149;10604467;10673500;10673501;10710310;10723029;10884347;11237011;11239457;11433015;11438666;11447225;11486021;11511362;11546806;11551930;11739720;11740489;11780126;11784853;11859374;11884399;12064478;12393879;12676794;12702766;12851404;12914926;1310361;14702041;15053879;15489290;15866171;16322561;17081983;17108107;17349958;17591690;18452278;18490454;19121998;1939271;19413330;19608861;19664995;19690332;19965871;20034391;20068231;20959462;21317932;23000554;23186163;23452851;23481700;23485397;23676219;23935956;24145406;24275569;2449431;24715725;24874608;25755297;26154972;26768311;27846572;28218747;28228285;28832583;28904123;29242379;29437277;29493099;29508533;29557506;29786170;30315122;30379171;30410026;31844290;32157095;32387766;32502341;32938616;32983136;33141586;33298915;33633747;33795473;33936100;33968037;35051231;35580925;36284347;7151173;7601352;7660122;7660129;7660130;8156590;8330735;8370526;8465201;8490964;8946909;9256425;9353262;9405375;9450929;9489704;9925639", "class_list": "", "function": "Data show that transcription cofactor TAF3 is required for transcription of the alpha spectrin SPTA1 gene. Publication Status: Online-Only, [RefSeq, PubMed]; Study shows that H3K4me3-TAF3 interactions direct global TFIID recruitment to active genes, some of which are p53 targets. Further analyses show that H3K4me3 enhances p53-dependent transcription by stimulating preinitiation complex formation., [RefSeq, PubMed]; The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:33795473). The TFIID complex structure can be divided into 3 modules TFIID-A, TFIID-B, and TFIID-C (PubMed:33795473). TAF3 forms the TFIID-A module together with TAF5 and TBP (PubMed:33795473). Required in complex with TBPL2 for the differentiation of myoblasts into myocytes (PubMed:11438666). The TAF3-TBPL2 complex replaces TFIID at specific promoters at an early stage in the differentiation process (PubMed:11438666)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "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": "Q05DA0;Q6GMS5;Q6P6B5;Q86VY6;Q9BQS9;Q9UFI8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046982 protein heterodimerization activity;GO:0002039 p53 binding;GO:0016251 RNA polymerase II general transcription initiation factor activity;GO:0140416 transcription regulator inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031965 nuclear membrane;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0042789 mRNA transcription by RNA polymerase II;GO:0051457 maintenance of protein location in nucleus", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q5VWG9-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TAP6-1", "uniprot_id": [ { "id": "UT14C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TAP6", "type": "external" } ], "mass": 87188.0, "length": 766, "protein_name": "U3 small nucleolar RNA-associated protein 14 homolog C", "gene_name": "UTP14C", "organism": "Human", "refseq_name": "U3 small nucleolar RNA-associated protein 14 homolog C", "refseq_ac": [ { "id": "NP_067677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067677", "type": "external" } ], "gene_names_uniprotkb": "UTP14C; KIAA0266", "gene_names_refseq": "2700066J21Rik; KIAA0266; UTP14B; UTP14C", "protein_names_uniprotkb": "U3 small nucleolar RNA-associated protein 14 homolog C", "protein_names_refseq": "U3 small nucleolar RNA-associated protein 14 homolog C; UTP14, U3 small nucleolar ribonucleoprotein, homolog C; UTP14, small subunit processome component homolog C", "tax_id": 9606, "disease": "", "pathway": " (hsa:9724); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 87, "publication_id_list": "10606270;11081632;11922599;11935223;11978965;12068309;12150911;12417735;15199136;15289605;16037817;16043514;16354793;16381836;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18438418;19033376;19106111;19332556;19413330;19463982;19564402;19801658;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22285623;22916032;23391857;23439679;23482395;2388630;24086612;24424021;24550520;25411247;25525153;25653167;25851604;25969445;26024233;26085946;26196125;26237581;27084949;27846572;27862975;28218747;28228285;28834231;29393594;29557506;29632711;30315122;30379171;30429286;31844290;32502341;32938616;33141586;33298915;33592498;33633747;33968037;34171305;34561969;35051231;9211966;9482744;9512526", "class_list": "glycogene;glycosyltransferase", "function": "Essential for spermatogenesis. May be required specifically for ribosome biogenesis and hence protein synthesis during male meiosis (By similarity)., [UniProtKB, PubMed]; May be functionally equivalent to mouse Utp14b and required for normal male fertility in humans, [RefSeq, PubMed]; We hypothesize that women, whose ovaries express UTP14c, are predisposed to ovarian cancer due to the disruption of protective signals that normally trigger TP53-mediated apoptosis and the dysregulation of genes that promote oncogenesis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 898, "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": "Q5FWG3;Q92555", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006364 rRNA processing;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q5TAP6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NB1-1", "uniprot_id": [ { "id": "CEP20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NB1", "type": "external" } ], "mass": 19778.0, "length": 174, "protein_name": "Centrosomal protein 20", "gene_name": "CEP20", "organism": "Human", "refseq_name": "centrosomal protein 20 isoform 2", "refseq_ac": [ { "id": "NP_001291426", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291426", "type": "external" } ], "gene_names_uniprotkb": "CEP20; C16orf63; FOPNL; FOR20; PHSECRG2", "gene_names_refseq": "C16orf63; CEP20; FOPNL; FOR20; PHSECRG2", "protein_names_uniprotkb": "Centrosomal protein 20; FGFR1OP N-terminal-like protein; FOP-related protein of 20 kDa; LisH domain-containing protein FOPNL", "protein_names_refseq": "FGFR1OP N-terminal like; FOP-related protein of 20 kDa; centrosomal protein 20 isoform 2; lisH domain-containing protein C16orf63; lisH domain-containing protein FOPNL; pluripotent embryonic stem cell-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:123811)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;19843651;20551181;23186163;24018379;24366607;25576301;25880248;26643951;27600516;27893789;27920218;28691553;28694353;28765046;28832583;28834231;28855257;29242379;29393594;29632046;30484775;30833945;31363079;31530632;31844290;32157095;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33912179;33968037;33981976;34171305;34932366;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "FOPNL genomic variant is associated with multiple myeloma., [RefSeq, PubMed]; Involved in the biogenesis of cilia (PubMed:20551181). Required for the recruitment of PLK1 to centrosomes and S phase progression (PubMed:24018379)., [UniProtKB, PubMed, PubMed]; Involved in the biogenesis of cilia. Required for the recruitment of PLK1 to centrosomes and S phase progression., [UniProtKB, UniProtKB, UniProtKB]; Microdeletions at 16p13.11 are associated with a predisposition to idiopathic generalized epilepsy., [RefSeq, PubMed]; Results together with the limitations of the original studies indicate that the reported associations between the MTHFD1L and FOPNL loci and MM survival are false positives due to a winner's curse effect. Publication Status: Online-Only, [RefSeq, PubMed]; The S100A6 interacts with FOR20 and related centrosomal proteins through a conserved N-terminal domain, suggesting a novel Ca(2+)-dependent regulation of centrosomal function., [RefSeq, PubMed]; The depletion of FOR20 (FOP-related protein of 20 kDa), a conserved centrosomal protein, inhibits S-phase progression and prevents targeting of Plk1 (polo-like kinase 1) to centrosomes, where FOR20 interacts with Plk1., [RefSeq, PubMed]; The results suggested that the centrosomal protein FOR20 is a new member of the microtubule-associated protein family and that it regulates the assembly and dynamics of microtubules while interacting with tubulin. 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": 6, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPU9", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005813 centrosome;GO:0031514 motile cilium;GO:0005814 centriole;GO:0034451 centriolar satellite;GO:0036064 ciliary basal body", "go_biological_process": "GO:0060271 cilium assembly;GO:0034453 microtubule anchoring;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q96NB1-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VTY9-1", "uniprot_id": [ { "id": "HHAT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VTY9", "type": "external" } ], "mass": 57313.0, "length": 493, "protein_name": "Protein-cysteine N-palmitoyltransferase HHAT", "gene_name": "HHAT", "organism": "Human", "refseq_name": "protein-cysteine N-palmitoyltransferase HHAT isoform 1", "refseq_ac": [ { "id": "NP_001116306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116306", "type": "external" } ], "gene_names_uniprotkb": "HHAT; MART2; SKI1", "gene_names_refseq": "HHAT; MART2; NNMS; SKI1; Skn", "protein_names_uniprotkb": "Protein-cysteine N-palmitoyltransferase HHAT; 2.3.1.-; Hedgehog acyltransferase; MART-2; Melanoma antigen recognized by T-cells 2; Skinny hedgehog protein 1", "protein_names_refseq": "melanoma antigen recognized by T-cells 2; protein-cysteine N-palmitoyltransferase HHAT isoform 1; protein-cysteine N-palmitoyltransferase HHAT; skinny hedgehog protein 1", "tax_id": 9606, "disease": "chondrodysplasia-pseudohermaphroditism syndrome (Disease Ontology:DOID:0060644)", "pathway": " (hsa:55733); (R-HSA-5358346); (R-HSA-5658034)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "10984056;11017805;11160356;11237011;11486055;15075292;15163793;15292211;15356051;16282375;16335952;16390857;16611729;17126548;17507410;18264092;18502753;18534984;18711132;19002207;19081070;19346256;19603532;20585641;21257310;21357747;21816240;22626636;22733134;22869377;23112049;23719536;23867461;24784881;25505265;25576301;25802875;26992070;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29393594;30315122;30912300;31154438;31844290;31875564;32157095;32488085;32807968;32938616;33298915;33392160;33592498;33912179;34112694;34185709;34890564;35045414;35580925;36010968;36030053;36303863;36631813;40326711;7885476;7985023;8689684;8824192;9593755", "class_list": "", "function": "'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]., [RefSeq]; A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis., [RefSeq, PubMed]; Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development. Publication Status: Online-Only, [RefSeq, PubMed]; Hedgehog acyltransferase catalyzes a random sequential reaction and utilizes multiple fatty acyl-CoA substrates., [RefSeq, PubMed]; Palmitoyl acyltransferase that catalyzes N-terminal palmitoylation of hedgehog (DHH, IHH or SHH) morphogens, promoting their maturation (PubMed:11486055, PubMed:18534984, PubMed:24784881, PubMed:31875564, PubMed:34112694, PubMed:34890564). Promotes the transfer of palmitoyl-CoA from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane, where hedgehog palmitoylation occurs (PubMed:31875564, PubMed:34112694, PubMed:34890564). Required for hedgehog signaling during limb development (By similarity). Plays a role in proper testis cord formation and the differentiation of Leydig cells (PubMed:24784881)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; SKI-1/S1P activity is thus essential for hepatitis C virus production and its inhibition should be considered for antiviral drug development. Review article, [RefSeq, PubMed]; SKN is necessary for the proliferation of the non-small cell lung carcinoma cells, [RefSeq, PubMed]; Structure, mechanism, and inhibition of Hedgehog acyltransferase., [RefSeq, PubMed]; Substrate and product complexes reveal mechanisms of Hedgehog acylation by HHAT., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 20, "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": "B7Z4D5;B7Z5I1;B7Z868;B7ZA75;D3DT91;F5H444;Q17RZ7;Q4G0K3;Q5CZ95;Q5TGI2;Q9NVH9;Q9Y3N8", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0005525 GTP binding;GO:0016409 palmitoyltransferase activity;GO:0008374 O-acyltransferase activity;GO:0016740 transferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0018009 N-terminal peptidyl-L-cysteine N-palmitoylation", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q5VTY9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WU20-1", "uniprot_id": [ { "id": "FRS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WU20", "type": "external" } ], "mass": 57029.0, "length": 508, "protein_name": "Fibroblast growth factor receptor substrate 2", "gene_name": "FRS2", "organism": "Human", "refseq_name": "fibroblast growth factor receptor substrate 2", "refseq_ac": [ { "id": "NP_001036020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036020", "type": "external" } ], "gene_names_uniprotkb": "FRS2", "gene_names_refseq": "FRS1A; FRS2A; FRS2alpha; FRS2; SNT-1; SNT1; SNT", "protein_names_uniprotkb": "Fibroblast growth factor receptor substrate 2; FGFR substrate 2; FGFR-signaling adaptor SNT; SNT-1; Suc1-associated neurotrophic factor target 1", "protein_names_refseq": "FGFR signalling adaptor; FGFR substrate 2; FGFR-signaling adaptor SNT; epididymis secretory sperm binding protein; fibroblast growth factor receptor substrate 2; suc1-associated neurotrophic factor target 1", "tax_id": 9606, "disease": "renal cell carcinoma (Disease Ontology:DOID:4450)", "pathway": " (hsa:10818); (R-HSA-109704); (R-HSA-1257604); (R-HSA-170968); (R-HSA-201556); (R-HSA-2219530); (R-HSA-5654689); (R-HSA-5654693); (R-HSA-5654695); (R-HSA-5654700); (R-HSA-5654706); (R-HSA-5654710); (R-HSA-5654712); (R-HSA-5654720); (R-HSA-5654726); (R-HSA-5654727); (R-HSA-5654732); (R-HSA-5654733); (R-HSA-5655253); (R-HSA-5655291); (R-HSA-5655302); (R-HSA-5655332); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-8853659); (R-HSA-9028731); (R-HSA-9696270); (R-HSA-9696273); (R-HSA-9725370)", "pathway_count": 29, "publication_count": 428, "publication_id_list": "10092678;10191262;10196222;10216106;10448070;10508167;10556217;10579907;10629055;10652257;10664463;10702393;10706082;10706887;10869344;10918587;10934142;10995764;11000521;11002419;11027663;11090077;11090629;11110708;11121404;11136978;11147812;11157491;11237011;11237712;11278445;11278720;11280786;11297579;11310834;11313946;11353842;11360177;11390647;11429702;11447289;11463336;11466412;11470823;11491658;11504915;11546808;11606067;11607835;11689702;11702783;11739186;11751994;11784792;11803464;11850821;11886862;11940653;11943732;11988758;11997436;12032311;12040181;12094235;12112524;12121613;12122009;12167717;12185581;12242309;12244061;12419216;12424201;12627230;12660731;12676795;12750159;12767043;12771945;12800156;12815057;12842009;12920229;12934099;12974390;1325671;1381348;14506247;14534538;14563642;14707138;14715624;14732713;14766744;14871245;14962911;15029211;15044950;15050920;15094036;15169778;15208656;15226403;15286081;15317731;15324302;15356145;15374880;15448205;1545823;15488758;15546878;15548653;15569713;15588951;15592455;15598814;15718470;15738000;15834429;15863030;15895073;15938644;16091734;16153455;16161041;16170336;16317043;16339315;16456541;16467200;16481321;16627759;16647110;16684964;16764984;16825495;16844695;16847462;16871283;16878150;16939498;16939974;17086210;1716764;17185414;17200115;17227708;17274988;17353907;17416736;17483340;17505008;17625570;17626883;17681947;17698633;17998941;18070884;18079394;18097461;18317450;18337450;18373495;18381441;18412956;18452557;18552176;18593892;18594010;18594509;18606717;18669648;18701132;18724359;18754654;18755892;18757403;18757432;18775330;18829560;18923523;18923524;18923525;18925875;18985070;1898771;18990089;18996843;19103595;19103606;19136556;19147536;19185485;19187780;19279408;19381019;19411071;19438505;19456272;19459784;19576174;19644473;19652666;19696444;19749790;19805105;19809159;19920141;19946327;19962665;20068231;20094046;20117945;20179196;20231295;20338997;20454865;20478380;20522708;20632993;20709759;20713702;20719933;20811643;21102635;21134980;21154129;21160078;21164297;21188471;21213368;21317208;21345110;21368164;21372320;21415216;21478295;21494621;21596819;21656749;21666749;21668414;21711248;21765395;21779496;21779497;21779505;21827948;21838707;21847362;21976531;21984976;21993244;22065583;22120714;22162641;22188813;22249260;22286764;22327622;22347464;22439933;22569528;22570254;22588880;22589270;22658521;22750304;22802530;22837387;23103841;23104988;23139213;23175443;23186163;23201355;23239810;23298836;23303910;23443682;23558953;23575685;23661334;23889739;23957430;24060861;24275569;24356251;24445144;24445538;24470253;24475247;24496003;24518094;24588013;24613930;24670165;24690281;24736079;24736082;24897931;24937142;24947326;25219551;25331893;25342631;25393796;25421750;25467007;25468936;25576301;25645385;25781681;25813404;25888806;25921060;26001147;26062823;26085527;26154972;26301689;26418745;26464158;26630010;26708155;26969432;26992070;27245569;27503831;27573755;27600516;27780853;27846572;27862975;27874193;28076410;28404650;28659337;28741662;28778966;28832583;28834231;29242379;29380702;29455642;29557506;29632711;29786170;29873274;29964125;30061385;30131584;30429286;30692217;31135801;31154438;31366041;31492838;31585938;31844290;31848261;31871319;32157095;32983136;33592498;34646012;34819673;34932366;35051231;35132862;35580925;36284347;36286392;37264620;37458641;37938771;38159618;38253038;6148751;7543144;7559490;7637810;7665556;7744773;7806500;7809086;7824924;7935463;7972015;8052307;8387505;8394845;8493579;8628282;8631863;8633037;8637703;8645157;8657148;8662982;8663426;8665852;8674117;8710374;8780727;8939933;9045692;9047384;9182757;9192684;9299438;9299490;9407096;9491986;9531558;9560161;9604935;9632781;9660748;9730987;9736715;9764818;9819383;9857065;9883723;9895304;9927426", "class_list": "", "function": "Adapter protein that links activated FGR and NGF receptors to downstream signaling pathways. Plays an important role in the activation of MAP kinases and in the phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1. Modulates signaling via SHC1 by competing for a common binding site on NTRK1., [UniProtKB, PubMed, PubMed]; Expression of fibroblast growth factor receptor substrate 2 (FRS2) in primary retroperitoneal liposarcoma and its clinical implications., [RefSeq, PubMed]; FRS2 regulated by miR-429 and miR-206 promotes angiogenesis in osteosarcoma., [RefSeq, PubMed]; Hsa_circ_0093741 competes with FRS2 for miR-562 binding sites to promote nephroblastoma progression., [RefSeq, PubMed]; Over-expression of microRNA-145 Elevating Autophagy Activities via Downregulating FRS2 Expression., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 23, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B0LPF2;B2R684;O43558;Q7LDQ6", "ec_number_list": [], "go_molecular_function": "GO:0005168 neurotrophin TRKA receptor binding;GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity;GO:0019211 phosphatase activator activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005912 adherens junction;GO:0016020 membrane", "go_biological_process": "GO:0007185 cell surface receptor protein tyrosine phosphatase signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:2000726 negative regulation of cardiac muscle cell differentiation;GO:0008543 fibroblast growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 43.2, "record_id": "Q8WU20-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99426-1", "uniprot_id": [ { "id": "TBCB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99426", "type": "external" } ], "mass": 27326.0, "length": 244, "protein_name": "Tubulin-folding cofactor B", "gene_name": "TBCB", "organism": "Human", "refseq_name": "tubulin-folding cofactor B isoform 1", "refseq_ac": [ { "id": "NP_001272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001272", "type": "external" } ], "gene_names_uniprotkb": "TBCB; CG22; CKAP1", "gene_names_refseq": "CG22; CKAP1; CKAPI; TBCB", "protein_names_uniprotkb": "Tubulin-folding cofactor B; Cytoskeleton-associated protein 1; Cytoskeleton-associated protein CKAPI; Tubulin-specific chaperone B", "protein_names_refseq": "cytoskeleton associated protein 1; cytoskeleton-associated protein CKAPI; tubulin-folding cofactor B isoform 1; tubulin-specific chaperone B", "tax_id": 9606, "disease": "neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia (Disease Ontology:DOID:0070718)", "pathway": " (hsa:1155); (R-HSA-389977)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10831612;11237011;15144186;15592455;15831477;16303566;17525332;18077418;18707149;19608861;19901323;20068231;20740604;22223895;22777741;23186163;23301498;24616531;24714562;25576301;25908846;26375851;26728094;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28393858;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;30030593;30315122;30410026;30429286;30484775;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32366039;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33968037;34019948;34171305;34185709;34229054;34725712;35051231;35580925;36284347;37938771;38665916;40856104;40914422;8978778;9265649", "class_list": "", "function": "Binds to alpha-tubulin folding intermediates after their interaction with cytosolic chaperonin in the pathway leading from newly synthesized tubulin to properly folded heterodimer (PubMed:9265649). Involved in regulation of tubulin heterodimer dissociation. May function as a negative regulator of axonal growth (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; Data indicate a microRNA-1825/TBCB/TUBA4A pathway as a putative pathogenic cascade in both familial ALS (fALS) and both sporadic (sALS)., [RefSeq, PubMed]; Our results showed that HILI suppresses microtubule polymerization and promotes cell proliferation, migration and invasion via TBCB for the first time, revealing a novel mechanism for HILI in tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; The role of the human TBCE and TBCB chaperones in alpha-tubulin-beta-tubulin dissociation, was investigated., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O00111;O00674;O14728;Q6FGY5", "ec_number_list": [], "go_molecular_function": "GO:0051010 microtubule plus-end binding;GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005938 cell cortex;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0007021 tubulin complex assembly;GO:0031122 cytoplasmic microtubule organization;GO:0007023 post-chaperonin tubulin folding pathway", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q99426-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35080-1", "uniprot_id": [ { "id": "PROF2_HUMAN", "url": "https://www.uniprot.org/uniprot/P35080", "type": "external" } ], "mass": 15046.0, "length": 140, "protein_name": "Profilin-2", "gene_name": "PFN2", "organism": "Human", "refseq_name": "profilin-2 isoform b", "refseq_ac": [ { "id": "NP_002619", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002619", "type": "external" } ], "gene_names_uniprotkb": "PFN2", "gene_names_refseq": "D3S1319E; PFL; PFN2", "protein_names_uniprotkb": "Profilin-2; Profilin II", "protein_names_refseq": "profilin II; profilin-2 isoform b", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:5217); (R-HSA-376176); (R-HSA-5663220)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10102266;10102268;10600384;10678165;10892742;10958683;11027290;11237011;11375980;12429848;12508280;12577064;12732141;12805219;15006353;15063764;15085137;15507212;15864301;15866170;15944396;16292343;16439214;16622419;16622420;16943183;17030981;17129783;17198702;1737036;17565045;18001770;18083107;18097444;18491316;18923426;19350017;19815554;20030946;20101212;20375348;20591975;21148482;21397845;21576392;21868368;22094460;22223895;22275430;22608513;22790947;23222643;23301498;23801653;24914801;29242379;30573663;31844290;32157095;32161166;32350084;32870666;32928873;32938616;33214551;33592498;33968037;34019948;34229054;35365445;35413990;35613309;36010968;36173861;37676718;38539084;38665916;7758455;8365484;9649308", "class_list": "", "function": "Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; ELAVL4 promotes the tumorigenesis of small cell lung cancer by stabilizing LncRNA LYPLAL1-DT and enhancing profilin 2 activation., [RefSeq, PubMed]; MiR-200b-3p is upregulated in the placental tissues from patients with preeclampsia and promotes the development of preeclampsia via targeting profilin 2., [RefSeq, PubMed]; OCT1-target neural gene PFN2 promotes tumor growth in androgen receptor-negative prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Oncogenic circ-SLC16A1 promotes progression of non-small cell lung cancer via regulation of the miR-1287-5p/profilin 2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; [Profilin 2 is highly expressed in gastric cancer and promotes tumor 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4C8;D3DNI4;Q4VBQ4;Q8WVF9;Q9HBK2", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0003785 actin monomer binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0098794 postsynapse", "go_biological_process": "GO:0010633 negative regulation of epithelial cell migration;GO:0098885 modification of postsynaptic actin cytoskeleton;GO:1900028 negative regulation of ruffle assembly;GO:0032233 positive regulation of actin filament bundle assembly;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P35080-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00338-1", "uniprot_id": [ { "id": "LDHA_HUMAN", "url": "https://www.uniprot.org/uniprot/P00338", "type": "external" } ], "mass": 36689.0, "length": 332, "protein_name": "L-lactate dehydrogenase A chain", "gene_name": "LDHA", "organism": "Human", "refseq_name": "L-lactate dehydrogenase A chain isoform 2", "refseq_ac": [ { "id": "NP_001128711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128711", "type": "external" } ], "gene_names_uniprotkb": "LDHA; PIG19", "gene_names_refseq": "GSD11; HEL-S-133P; LDHA; LDHM; PIG19", "protein_names_uniprotkb": "L-lactate dehydrogenase A chain; 1.1.1.27; Cell proliferation-inducing gene 19 protein; LDH muscle subunit; LDH-A; LDH-M; Renal carcinoma antigen NY-REN-59", "protein_names_refseq": "L-lactate dehydrogenase A chain isoform 2; L-lactate dehydrogenase A chain; LDH muscle subunit; LDH-A; LDH-M; cell proliferation-inducing gene 19 protein; epididymis secretory sperm binding protein Li 133P; lactate dehydrogenase M; proliferation-inducing gene 19; renal carcinoma antigen NY-REN-59", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); glycogen storage disease XI (Disease Ontology:DOID:0061286); hypertension (Disease Ontology:DOID:10763); hyperglycemia (Disease Ontology:DOID:4195)", "pathway": " (hsa:3939); (R-HSA-70268); (R-HSA-9861718)", "pathway_count": 3, "publication_count": 207, "publication_id_list": "10.1101/2023.09.13.557529;10508479;11237011;11276087;11377399;11466336;11863375;11945601;12121650;12962632;1445373;14596586;14654843;15104674;15551868;15565337;15592455;15870898;16139798;16497976;18351441;18387606;18507432;1931970;1935931;1953713;1959923;19608861;19615748;19679512;19690332;19748539;1993674;1996957;20068231;20112406;21081667;21156174;21209280;21969607;22223895;22299025;22499340;22628558;22905912;23186163;23284632;2334430;23555621;24275569;2440048;24714562;24715725;24998673;25202825;25418920;25502872;25505266;25575590;25576301;25594249;25645385;25802875;25892735;26552660;26758079;26768311;26811146;26853435;26929215;26992070;27166188;27317664;27452731;27600516;27726376;27846572;27920218;28063628;28218747;28218905;28228285;28467828;28514659;28516914;28649982;28832583;28834231;28871256;28904123;29242379;29314611;29317506;29351928;29393594;29472561;29493099;29508533;29557506;29602958;29632046;29632711;29769354;29786170;29789417;29911972;3000353;30138330;30315122;30397120;30429286;30444036;30524438;30573663;30745841;30779550;30833945;31020640;31154438;31217245;31222486;31373491;31530632;31735643;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32403431;32488085;32502341;32572027;32897882;32938616;32983136;32983978;33043033;33064660;33141586;33214551;33298915;33392160;33406399;33462636;33572095;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;3435492;34357683;34381247;34405274;34433824;34509645;34561969;34725712;34932366;35051231;35083852;35102488;35115484;35138101;35154160;35251023;35318648;35525866;35561310;35580925;36010968;36215666;36239424;36241641;36284347;36417180;37074911;37217939;37938771;3838278;38665916;39044184;39205592;39215270;39393052;40596516;40914422;4822737;7757881;7818469;7908613;8726225;9119391;9705294", "class_list": "", "function": "Advancements in research on lactate dehydrogenase A in urinary system tumors. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Interconverts simultaneously and stereospecifically pyruvate and lactate with concomitant interconversion of NADH and NAD(+)., [UniProtKB, PubMed]; Inverse FASN and LDHA correlation drives metabolic resistance in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA TMPO-AS1 Promotes Triple-Negative Breast Cancer by Sponging miR-383-5p to Trigger the LDHA Axis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the A subunit of lactate dehydrogenase enzyme which catalyzes the reversible conversion of pyruvate to lactate with the concomitant oxidation of NADH to NAD in anaerobic glycolysis. The protein is found predominantly in skeletal muscle and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2023]., [RefSeq]; USP4 promotes PTC progression by stabilizing LDHA and activating the MAPK and AKT signaling pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DKQ2;B7Z5E3;D3DQY3;F8W819;Q53G53;Q6IBM7;Q6ZNV1;Q9UDE8;Q9UDE9", "ec_number_list": [ { "id": "1.1.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.27", "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:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0004459 L-lactate dehydrogenase (NAD+) activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0021762 substantia nigra development;GO:0006096 glycolytic process;GO:0006089 lactate metabolic process;GO:0042867 pyruvate catabolic process;GO:0019752 carboxylic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 21.8, "record_id": "P00338-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16644-1", "uniprot_id": [ { "id": "MAPK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16644", "type": "external" } ], "mass": 42987.0, "length": 382, "protein_name": "MAP kinase-activated protein kinase 3", "gene_name": "MAPKAPK3", "organism": "Human", "refseq_name": "MAP kinase-activated protein kinase 3", "refseq_ac": [ { "id": "NP_001230854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230854", "type": "external" } ], "gene_names_uniprotkb": "MAPKAPK3", "gene_names_refseq": "3PK; MAPKAP-K3; MAPKAP3; MAPKAPK-3; MAPKAPK3; MDPT3; MK-3; MK3", "protein_names_uniprotkb": "MAP kinase-activated protein kinase 3; 2.7.11.1; 3pK; Chromosome 3p kinase; MAPK-activated protein kinase 3; MAPKAP kinase 3; MAPKAP-K3; MAPKAPK-3; MK-3", "protein_names_refseq": "MAP kinase-activated protein kinase 3; MAPKAP kinase 3; chromosome 3p kinase; mitogen-activated protein kinase-activated protein kinase 3", "tax_id": 9606, "disease": "patterned macular dystrophy 3 (Disease Ontology:DOID:0060865)", "pathway": " (hsa:7867); (R-HSA-171007); (R-HSA-2559580); (R-HSA-4420097); (R-HSA-450302)", "pathway_count": 5, "publication_count": 148, "publication_id_list": "10037737;10075701;10207622;10347217;10383393;10395673;10677529;10692392;10722742;10744763;10749680;10772813;10781029;10871633;11007481;11237011;11278486;11564866;11695992;11696015;12134156;12134158;12171911;12189133;12193592;12214271;12215529;12391143;12421820;12435631;12464388;12660731;12808055;12810700;12820653;13130464;14507994;14532106;14724572;15026417;15247219;15287722;15302577;15308668;15563468;15592455;15688067;15695828;15837794;15866172;15962004;16186825;16336962;16337592;16436515;16760434;16826196;16966330;17030947;17199126;17210787;17237347;17254968;17255097;17293873;17332741;17344414;17344846;17395714;17686471;17765224;17825402;17875933;18021073;18365017;18508601;18793328;19054851;19230644;19267251;19451217;19451218;19462008;19528227;19937655;20058876;20599781;20658524;21445309;21565500;21986495;22020331;22325352;22327215;22336108;22683641;22689825;23216836;26744326;28904123;29493099;30379171;30429286;31844290;32157095;32357974;32387766;32938616;33912179;33968037;33981976;34357683;35051231;35132862;35580925;7509446;7535770;7588633;7816143;7859739;7972015;8001816;8078588;8259215;8319905;8533096;8617235;8622669;8622688;8626550;8741839;8774846;8846784;8974401;8986718;9030721;9099726;9162092;9182576;9195981;9393975;9398617;9472046;9529249;9564042;9628874;9768359;9824166", "class_list": "", "function": "Stress-activated serine/threonine-protein kinase involved in cytokines production, endocytosis, cell migration, chromatin remodeling and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. MAPKAPK2 and MAPKAPK3, share the same function and substrate specificity, but MAPKAPK3 kinase activity and level in protein expression are lower compared to MAPKAPK2. Phosphorylates HSP27/HSPB1, KRT18, KRT20, RCSD1, RPS6KA3, TAB3 and TTP/ZFP36. Mediates phosphorylation of HSP27/HSPB1 in response to stress, leading to dissociate HSP27/HSPB1 from large small heat-shock protein (sHsps) oligomers and impair their chaperone activities and ability to protect against oxidative stress effectively. Involved in inflammatory response by regulating tumor necrosis factor (TNF) and IL6 production post-transcriptionally: acts by phosphorylating AU-rich elements (AREs)-binding proteins, such as TTP/ZFP36, leading to regulate the stability and translation of TNF and IL6 mRNAs. Phosphorylation of TTP/ZFP36, a major post-transcriptional regulator of TNF, promotes its binding to 14-3-3 proteins and reduces its ARE mRNA affinity leading to inhibition of dependent degradation of ARE-containing transcript. Involved in toll-like receptor signaling pathway (TLR) in dendritic cells: required for acute TLR-induced macropinocytosis by phosphorylating and activating RPS6KA3. Also acts as a modulator of Polycomb-mediated repression., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 1, "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": "B5BU67", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "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": "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:0009931 calcium-dependent protein serine/threonine kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0051019 mitogen-activated protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0032496 response to lipopolysaccharide;GO:0035556 intracellular signal transduction;GO:0000165 MAPK cascade;GO:0034097 response to cytokine", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q16644-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P444-1", "uniprot_id": [ { "id": "MTFR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P444", "type": "external" } ], "mass": 43384.0, "length": 385, "protein_name": "Mitochondrial fission regulator 2", "gene_name": "MTFR2", "organism": "Human", "refseq_name": "mitochondrial fission regulator 2 isoform a", "refseq_ac": [ { "id": "NP_001092756", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092756", "type": "external" } ], "gene_names_uniprotkb": "MTFR2; DUFD1; FAM54A", "gene_names_refseq": "DUFD1; FAM54A; MTFR2", "protein_names_uniprotkb": "Mitochondrial fission regulator 2; DUF729 domain-containing protein 1", "protein_names_refseq": "DUF729 domain-containing protein 1; family with sequence similarity 54, member A; mitochondrial fission regulator 2 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:113115)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;20068231;23186163;23481700;25576301;26375851;26992070;27920218;28228285;28832583;29242379;29632046;30315122;30833945;31740625;31844290;31998317;32387766;32488085;32938616;33936100;33968037;34039308;34156259;34171305;34357683;34509645;34523692;35561310;37903059;38238834", "class_list": "", "function": "Dysregulation of MTFR2, ATP5IF1 and BAK1 in Sertoli cells relates to idiopathic non-obstructive azoospermia via inhibiting mitochondrial fission and inducing mitochondrial dysfunctiondagger., [RefSeq, PubMed]; Evaluation of clinical value and potential mechanism of MTFR2 in lung adenocarcinoma via bioinformatics. Publication Status: Online-Only, [RefSeq, PubMed]; MTFR2-dependent mitochondrial fission promotes HCC progression. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in mitochondrial aerobic respiration essentially in the testis. Can also promote mitochondrial fission (By similarity)., [UniProtKB]; Mitochondrial fission regulator 2 (MTFR2) promotes growth, migration, invasion and tumour progression in breast cancer cells. Erratum:[Aging (Albany NY). 2020 Jan 8;12(1):1034-1036. doi: 10.18632/aging.102758. PMID: 31955153], [RefSeq, PubMed]; Plays a role in mitochondrial aerobic respiration. Regulates mitochondrial organization and fission., [UniProtKB, UniProtKB, UniProtKB]; Transcription factor HOXC10 activates the expression of MTFR2 to regulate the proliferation, invasion and migration of colorectal cancer cells., [RefSeq, PubMed]; Upregulated expression of MTFR2 as a novel biomarker predicts poor prognosis in hepatocellular carcinoma by bioinformatics analysis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K8D8;E1P585;Q5JWR7;Q6ZUE8;Q7L3U6;Q9BZ39", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0007005 mitochondrion organization;GO:0000266 mitochondrial fission;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q6P444-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXM9-1", "uniprot_id": [ { "id": "FSD1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXM9", "type": "external" } ], "mass": 59578.0, "length": 530, "protein_name": "FSD1-like protein", "gene_name": "FSD1L", "organism": "Human", "refseq_name": "FSD1-like protein isoform 3", "refseq_ac": [ { "id": "NP_001138785", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138785", "type": "external" } ], "gene_names_uniprotkb": "FSD1L; CCDC10; CSDUFD1; FSD1CL; FSD1NL", "gene_names_refseq": "CCDC10; CSDUFD1; FSD1CL; FSD1L; FSD1NL; MIR1", "protein_names_uniprotkb": "FSD1-like protein; Coiled-coil domain-containing protein 10; FSD1 N-terminal-like protein", "protein_names_refseq": "FSD1 C-terminal like; FSD1 N-terminal like; FSD1-like protein isoform 3; FSD1-like protein; coiled-coil domain containing 10; cystatin and DUF19 domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83856)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;11267680;18669648;20068231;20800088;24715725;25892735;26375851;28228285;28904123;29437277;29632046;30315122;31154438;31217245;31530632;31844290;32157095;32357974;32488085;32502341;32938616;32983136;33298915;33717175;34171305;34561969;34932366;35051231;36215666;37386647", "class_list": "", "function": "Maternal glycemia in pregnancy is longitudinally associated with blood DNAm variation at the FSD1L gene from birth to 5 years of age. Publication Status: Online-Only, [RefSeq, PubMed]; Significant internalisation of type 2 cystatins from the extracellular to intracellular compartments, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A2A338;A6NKH7;B7Z5S6;B7Z5W3;Q5T879;Q5T880", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9BXM9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48058-1", "uniprot_id": [ { "id": "GRIA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P48058", "type": "external" } ], "mass": 100871.0, "length": 902, "protein_name": "Glutamate receptor 4", "gene_name": "GRIA4", "organism": "Human", "refseq_name": "glutamate receptor 4 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001070712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070712", "type": "external" } ], "gene_names_uniprotkb": "GRIA4; GLUR4; GluA4", "gene_names_refseq": "GLUR4C; GLUR4; GLURD; GRIA4; GluA4-ATD; GluA4; NEDSGA", "protein_names_uniprotkb": "Glutamate receptor 4; AMPA-selective glutamate receptor 4; GluR-4; GluR-D; GluR4; Glutamate receptor ionotropic, AMPA 4", "protein_names_refseq": "AMPA-selective glutamate receptor 4; gluR-4; gluR-D; glutamate receptor 4 isoform 3 precursor; glutamate receptor 4; glutamate receptor, ionotrophic, AMPA 4; glutamate receptor, ionotropic, AMPA 4", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); depressive disorder (Disease Ontology:DOID:1596); central nervous system disease (Disease Ontology:DOID:331); schizophrenia (Disease Ontology:DOID:5419); neurodevelopmental disorder with or without seizures and gait abnormalities (MONDO:MONDO:0060641)", "pathway": " (hsa:2893); (R-HSA-399710); (R-HSA-399719); (R-HSA-416993); (R-HSA-438066); (R-HSA-8849932)", "pathway_count": 6, "publication_count": 39, "publication_id_list": "10366608;11237011;12172541;12471040;12536214;12603841;12815021;14567697;16055064;16495444;16630835;17409242;18227064;18311135;19144831;19217372;19681166;20058876;20600927;21172611;24715725;26154972;26321637;26992070;29220673;29557506;29789417;30568303;31154438;32350084;33141586;34719006;35051231;36010968;38003293;7569905;8589990;8601796;9648857", "class_list": "", "function": "Association of SLC12A1 and GLUR4 Ion Transporters with Neoadjuvant Chemoresistance in Luminal Locally Advanced Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Colorectal cancer promoter methylation alteration affects the expression of glutamate ionotropic receptor AMPA type subunit 4 alternative isoforms potentially relevant in colon tissue., [RefSeq, PubMed]; Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]., [RefSeq]; Ionotropic glutamate receptor that functions as a ligand-gated cation channel, gated by L-glutamate and glutamatergic agonists such as alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), quisqualic acid, and kainic acid (By similarity). L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system and plays an important role in fast excitatory synaptic transmission (By similarity). Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse upon entry of monovalent and divalent cations such as sodium and calcium. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist (By similarity). In the presence of CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of L-glutamate (PubMed:21172611)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; 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]", "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": 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q86XE8", "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:0001540 amyloid-beta binding;GO:0004970 glutamate-gated receptor activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0004971 AMPA glutamate receptor activity;GO:0099507 ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0043025 neuronal cell body;GO:0043197 dendritic spine;GO:0030666 endocytic vesicle membrane", "go_biological_process": "GO:0035249 synaptic transmission, glutamatergic;GO:0050804 modulation of chemical synaptic transmission;GO:0034392 negative regulation of smooth muscle cell apoptotic process;GO:0007215 glutamate receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "P48058-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19438-1", "uniprot_id": [ { "id": "TNR1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P19438", "type": "external" } ], "mass": 50495.0, "length": 455, "protein_name": "Tumor necrosis factor receptor superfamily member 1A", "gene_name": "TNFRSF1A", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 1A isoform 1 precursor", "refseq_ac": [ { "id": "NP_001056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001056", "type": "external" } ], "gene_names_uniprotkb": "TNFRSF1A; TNFAR; TNFR1", "gene_names_refseq": "CD120a; FPF; TBP1; TNF-R-I; TNF-R55; TNF-R; TNFAR; TNFR1; TNFR55; TNFR60; TNFRSF1A; p55-R; p55; p60", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 1A; TNF-R1; TNF-RI; TNFR-I; Tumor necrosis factor receptor 1; Tumor necrosis factor receptor type I; p55; p60", "protein_names_refseq": "TNF-R1; TNF-RI; TNFR-I; tumor necrosis factor binding protein 1; tumor necrosis factor receptor superfamily member 1A isoform 1 precursor; tumor necrosis factor receptor superfamily member 1A; tumor necrosis factor receptor type 1; tumor necrosis factor-alpha receptor", "tax_id": 9606, "disease": "cryptogenic organizing pneumonia (Disease Ontology:DOID:0050157); obstructive sleep apnea (Disease Ontology:DOID:0050848); colorectal adenoma (Disease Ontology:DOID:0050860); lupus nephritis (Disease Ontology:DOID:0080162); polymyositis (Disease Ontology:DOID:0080745); TNF receptorassociated periodic syndrome (Disease Ontology:DOID:0090018); Alzheimer's disease (Disease Ontology:DOID:10652); adult respiratory distress syndrome (Disease Ontology:DOID:11394); sciatic neuropathy (Disease Ontology:DOID:11446); uveitis (Disease Ontology:DOID:13141); allergic bronchopulmonary aspergillosis (Disease Ontology:DOID:13166); Behcet's disease (Disease Ontology:DOID:13241); endometrial cancer (Disease Ontology:DOID:1380); root resorption (Disease Ontology:DOID:14550); cystic fibrosis (Disease Ontology:DOID:1485); colon carcinoma (Disease Ontology:DOID:1520); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); anemia (Disease Ontology:DOID:2355); multiple sclerosis (Disease Ontology:DOID:2377); ovarian cancer (Disease Ontology:DOID:2394); glomerulonephritis (Disease Ontology:DOID:2921); IgA glomerulonephritis (Disease Ontology:DOID:2986); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); ischemia (Disease Ontology:DOID:326); fibrosarcoma (Disease Ontology:DOID:3355); coronary artery disease (Disease Ontology:DOID:3393); middle cerebral artery infarction (Disease Ontology:DOID:3525); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); ureteral obstruction (Disease Ontology:DOID:5199); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); acne (Disease Ontology:DOID:6543); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); extrinsic allergic alveolitis (Disease Ontology:DOID:841); Crohn's disease (Disease Ontology:DOID:8778); psoriasis (Disease Ontology:DOID:8893); systemic lupus erythematosus (Disease Ontology:DOID:9074); amyloidosis (Disease Ontology:DOID:9120); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); multiple sclerosis, susceptibility to, 5 (MONDO:MONDO:0013893)", "pathway": " (hsa:7132); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5626978); (R-HSA-5669034); (R-HSA-6783783); (R-HSA-75893)", "pathway_count": 8, "publication_count": 233, "publication_id_list": "10.1101/2023.09.13.557529;10074428;10092818;10199409;10356400;10359574;10359578;10398604;10415057;10433356;10484778;10521396;10542291;10597252;10615125;10837247;10902757;11098060;11181075;11237011;11427719;11435466;11443543;11571266;11577081;11606045;11786908;11882293;11911831;12167698;12189164;12391233;12554859;12626585;12709429;12721308;12832402;12887920;12949498;13130484;1315717;1460289;14610673;14656435;14716293;15024054;15247912;15258597;15356117;15465831;15470070;15556967;15870263;15919823;16260783;16282325;16501042;1655907;16603398;16682944;16709567;16829951;16829952;16953224;16982608;1698610;1702293;17314102;17632511;17636564;17702576;18178551;18571443;18606301;19278658;19289468;1940369;1940799;19416807;19906316;19910467;20005846;20032458;20080539;20145033;20185725;20219915;20222921;20304918;20307208;20385093;20510730;20979233;21091114;21235526;21300286;21408173;2153136;2158862;2158863;2170974;21724995;21976655;22179575;22197273;22297296;22435550;22479555;22664871;22801493;22801960;22848449;23313255;23746843;23955153;24070496;24098568;24130170;24246475;24323043;24726323;24726327;24743777;25502872;25565632;26183779;26344099;26452604;26811146;26900751;26997266;27307491;27458237;27545878;27552911;27591049;28218747;2848815;28506461;28904123;28920952;28920954;29242379;29557506;29632711;29642005;29786170;30146158;30361438;30420664;30779550;30979585;30988283;31154438;31366726;31511692;32320653;32350084;32502341;32766249;32938616;32983136;33469115;33592498;33912179;33936100;33968037;34078123;34162724;34171305;34357683;34363755;34876703;35051231;35580925;35941131;37074911;38382266;38562920;38865403;39178856;39894887;7510216;7512027;7512451;7516408;7531702;7543512;7593617;7594602;7667287;7684412;7687627;7758105;7902377;7913952;8015639;8063757;8102388;8120384;8120391;8163946;8186324;8301137;8387891;8537680;8662928;8663014;8679576;8734788;8742066;8808629;8871664;8871669;8897595;8910398;8921438;8939750;8946277;9013939;9049422;9065443;9115275;9312047;9354687;9449724;9550426;9557650;9794440;9836587;9878548;9915703;9918218", "class_list": "", "function": "Association of polymorphisms in the TNFA, TNFRSF1A and TNFRSF1B genes with lepromatous leprosy in Western Mexican patients. Publication Status: Online-Only, [RefSeq, PubMed]; Progesterone modulates TNF receptors expression by Jurkat cells cultured with plasma from pregnant women with preeclampsia., [RefSeq, PubMed]; Receptor for TNFSF2/TNF and homotrimeric TNFSF1/lymphotoxin-alpha. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Contributes to the induction of non-cytocidal TNF effects including anti-viral state and activation of the acid sphingomyelinase., [UniProtKB]; Reduced expressions of apoptosis-related proteins TRAIL, Bcl-2, and TNFR1 in NK cells of juvenile-onset systemic lupus erythematosus patients: relations with disease activity, nephritis, and neuropsychiatric involvement. Publication Status: Online-Only, [RefSeq, PubMed]; TNFR1 signaling promotes pancreatic tumor growth by limiting dendritic cell number and function., [RefSeq, PubMed]; This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 46, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K4X3;B2RDE4;B3KPQ1;B4DQB7;B4E309;B5M0B5;D3DUR1;Q9UCA4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0043120 tumor necrosis factor binding;GO:0005031 tumor necrosis factor receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:1903140 regulation of establishment of endothelial barrier;GO:0006954 inflammatory response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0072659 protein localization to plasma membrane;GO:0050728 negative regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "P19438-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100011001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTV5-1", "uniprot_id": [ { "id": "FSD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTV5", "type": "external" } ], "mass": 55820.0, "length": 496, "protein_name": "Fibronectin type III and SPRY domain-containing protein 1", "gene_name": "FSD1", "organism": "Human", "refseq_name": "fibronectin type III and SPRY domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_077309", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077309", "type": "external" } ], "gene_names_uniprotkb": "FSD1; GLFND; MIR1; VLP27", "gene_names_refseq": "FSD1; GLFND; MIR1", "protein_names_uniprotkb": "Fibronectin type III and SPRY domain-containing protein 1; MID1-related protein 1; Microtubule-associated protein GLFND", "protein_names_refseq": "MID1-related protein 1; fibronectin type 3 and SPRY (spla, ryanodine) domain containing (with coiled-coil motif) 1; fibronectin type 3 and SPRY domain containing 1; fibronectin type III and SPRY domain-containing protein 1 isoform 1; fibronectin type III and SPRY domain-containing protein 1; microtubule-associated protein GLFND; midline 1-related protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79187)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;11267680;12154070;12445389;19413330;22645359;24129315;26024233;26036633;26992070;27923712;28471448;28904123;29242379;29493099;29557506;30538248;30551391;30779550;31092671;31217245;31844290;32157095;32357974;32488085;32938616;32983136;33592498;33912179;33981976;35051231;36241641", "class_list": "", "function": "Data report the identification of MIR1, a protein with microtubule-binding activity which is located at the centrosome and is related to MID1/midin. [MIR1], [RefSeq, PubMed]; May be involved in microtubule organization and stabilization., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Overexpression of miR-1 mimics significantly decreased tumor glycolysis, including lactate production and glucose uptake, and cell proliferation, and these effects were reversed by ectopic expression of Smad3. Publication Status: Online-Only, [RefSeq, PubMed]; Proliferation of PC cells by targeting the c-Met/Akt/mTOR signaling pathway., [RefSeq, PubMed]; Taken together, our findings established a tumor suppressive role for miR-1 in the progression of ccRCC by targeting CDK4, CDK6, Caprin1 and Slug and suggested miR-1 can be served as a novel potential therapeutic target for ccRCC. Erratum:[Oncotarget. 2019 Dec 24;10(67):7183-7184. doi: 10.18632/oncotarget.27357. PMID: 31903176], [RefSeq, PubMed]; The centrosome protein FSD1 anchors microtubule asters to interphase centrosomes by binding to microtubules. Publication Status: Online-Only, [RefSeq, PubMed]; These regulatory mechanisms of miR-1 expression could help us to understand the functions of altered miR-1 expression. Review article, [RefSeq, PubMed]; This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [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": 3, "reported_mutagensis": 8, "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": "B2RDT0;Q9BXN0;Q9HAG4", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0032154 cleavage furrow", "go_biological_process": "GO:0051301 cell division;GO:0060236 regulation of mitotic spindle organization;GO:0032465 regulation of cytokinesis;GO:0031122 cytoplasmic microtubule organization;GO:0051302 regulation of cell division", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9BTV5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXT5-1", "uniprot_id": [ { "id": "FX4L4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXT5", "type": "external" } ], "mass": 45892.0, "length": 416, "protein_name": "Forkhead box protein D4-like 4", "gene_name": "FOXD4L4", "organism": "Human", "refseq_name": "forkhead box protein D4-like 4", "refseq_ac": [ { "id": "NP_954714", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_954714", "type": "external" } ], "gene_names_uniprotkb": "FOXD4L4; FOXD4B; FOXD4L2", "gene_names_refseq": "FOXD4L2; FOXD4L4; FOXD4b; bA460E7.2", "protein_names_uniprotkb": "Forkhead box protein D4-like 4; FOXD4-like 4; Forkhead box protein D4-like 2; Forkhead box protein D4B; Myeloid factor-gamma", "protein_names_refseq": "FOXD4-like 4; forkhead box D4-like 2; forkhead box protein D4-like 2; forkhead box protein D4-like 4; forkhead box protein D4b; myeloid factor-gamma; winged helix factor-1; winged helix transcription factor beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:349334)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "12234674;12421752;15233989", "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": 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": "Q5RIB4;Q6VB85", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO: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": 0.4, "record_id": "Q8WXT5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92949-1", "uniprot_id": [ { "id": "FOXJ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92949", "type": "external" } ], "mass": 45247.0, "length": 421, "protein_name": "Forkhead box protein J1", "gene_name": "FOXJ1", "organism": "Human", "refseq_name": "forkhead box protein J1", "refseq_ac": [ { "id": "NP_001445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001445", "type": "external" } ], "gene_names_uniprotkb": "FOXJ1; FKHL13; HFH4", "gene_names_refseq": "CILD43; FKHL13; FOXJ1; HFH-4; HFH4", "protein_names_uniprotkb": "Forkhead box protein J1; Forkhead-related protein FKHL13; HFH-4; Hepatocyte nuclear factor 3 forkhead homolog 4", "protein_names_refseq": "fork head homologue 4; forkhead box protein J1; forkhead transcription factor HFH-4; forkhead-like 13; forkhead-related protein FKHL13; hepatocyte nuclear factor 3 forkhead homolog 4", "tax_id": 9606, "disease": "Kartagener syndrome (Disease Ontology:DOID:0050144); primary ciliary dyskinesia 43 (Disease Ontology:DOID:0111856); congenital heart disease (Disease Ontology:DOID:1682); allergic rhinitis (Disease Ontology:DOID:4481); primary ciliary dyskinesia (Disease Ontology:DOID:9562)", "pathway": " (hsa:2302)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "16518568;29557506;31154438;31630787;31844290;31848261;33392160;34132502;34185709;35051231;35580925;36284347;36323878;36929635;37158461;9073514;9530170", "class_list": "", "function": "Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus., [RefSeq, PubMed]; Congenital heart defects caused by FOXJ1., [RefSeq, PubMed]; Down-expression of Foxj1 on airway epithelium with impaired cilia architecture in non-cystic fibrosis bronchiectasis implies disease severity., [RefSeq, PubMed]; Increased FOXJ1 protein expression is associated with improved overall survival in high-grade serous ovarian carcinoma: an Ovarian Tumor Tissue Analysis Consortium Study., [RefSeq, PubMed]; This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.[provided by RefSeq, Sep 2009]., [RefSeq]; Transcription factor specifically required for the formation of motile cilia (PubMed:31630787). Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'-KTTTGTTGTTKTW-3' (where H is not G, W is A or T, D is not C, and K is G or T). Activates the transcription of a variety of ciliary proteins in the developing brain and lung., [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": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O00630", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0060429 epithelium development;GO:0002508 central tolerance induction;GO:0002635 negative regulation of germinal center formation;GO:0002897 positive regulation of central B cell tolerance induction;GO:0035089 establishment of apical/basal cell polarity", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q92949-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CU9-1", "uniprot_id": [ { "id": "FXRD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CU9", "type": "external" } ], "mass": 53812.0, "length": 486, "protein_name": "FAD-dependent oxidoreductase domain-containing protein 1", "gene_name": "FOXRED1", "organism": "Human", "refseq_name": "FAD-dependent oxidoreductase domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_060017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060017", "type": "external" } ], "gene_names_uniprotkb": "FOXRED1; FP634", "gene_names_refseq": "FOXRED1; FP634; H17; MC1DN19", "protein_names_uniprotkb": "FAD-dependent oxidoreductase domain-containing protein 1; 1.-.-.-", "protein_names_refseq": "FAD-dependent oxidoreductase domain-containing protein 1 isoform 1; FAD-dependent oxidoreductase domain-containing protein 1", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 19 (Disease Ontology:DOID:0112085)", "pathway": " (hsa:55572); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10497265;11220739;11230166;11237011;17936786;19752196;20406883;20552642;20818383;20858599;21924235;22424782;23481700;23553477;24191001;25418920;25678554;25681241;25765152;25880248;26235939;26992070;27215383;27499296;27626371;27920218;28218747;28228285;28510447;28832583;28904123;29242379;29393594;29437277;29632046;30315122;31666358;31844290;31866046;31998317;32265295;32320651;32357974;32387766;32897882;32938616;33141586;33298915;33879611;33882309;33912179;33936100;33968037;33981976;34087483;34211107;34357683;34509645;35051231;35333655;35561310;35614220;38199007;40914422;9571201", "class_list": "", "function": "A structural model of FOXRED1 reveals a large substrate-binding cavity and a putative oxygen-binding site., [RefSeq, PubMed]; FOXRED1 is a crucial component in the productive assembly of respiratory chain complex I and that mutations in FOXRED1 leading to partial loss of function cause defects in complex I biogenesis., [RefSeq, PubMed]; Loss of FOXRED1, coupled with protein, choline and/or folate-deficient diets results in the depletion of glutathione, the dysregulation of nitric oxide metabolism and the peroxynitrite-mediated inactivation of complex I., [RefSeq, PubMed]; Mutations in FOXRED1 are associated with complex I deficiency., [RefSeq, PubMed]; Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:20858599, PubMed:25678554). Involved in mid-late stages of complex I assembly (PubMed:25678554)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Results show that depletion of FOXRED1 in myoblasts results in decreased levels of fully assembled complexes I and II. FOXRED1 associates with the ND1-containing subcomplexes of ~370 kDa and ~620 kDa and that FOXRED1 activity is required for the formation of a 550-kDa subcomplex of complex I. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KN84;B4DHU2;Q71MG0;Q9BU39;Q9UKY9", "ec_number_list": [ { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "1.3.8.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.7", "type": "external" }, { "id": "1.3.8.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.8", "type": "external" } ], "go_molecular_function": "GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0022904 respiratory electron transport chain", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q96CU9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99958-1", "uniprot_id": [ { "id": "FOXC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99958", "type": "external" } ], "mass": 53719.0, "length": 501, "protein_name": "Forkhead box protein C2", "gene_name": "FOXC2", "organism": "Human", "refseq_name": "forkhead box protein C2", "refseq_ac": [ { "id": "NP_005242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005242", "type": "external" } ], "gene_names_uniprotkb": "FOXC2; FKHL14; MFH1", "gene_names_refseq": "FKHL14; FOXC2; LD; MFH-1; MFH1", "protein_names_uniprotkb": "Forkhead box protein C2; Forkhead-related protein FKHL14; MFH-1 protein; Mesenchyme fork head protein 1; Transcription factor FKH-14", "protein_names_refseq": "MFH-1,mesenchyme forkhead 1; forkhead box C2 (MFH-1, mesenchyme forkhead 1); forkhead box protein C2; forkhead, Drosophila, homolog-like 14; forkhead-related protein FKHL14; mesenchyme fork head protein 1; transcription factor FKH-14", "tax_id": 9606, "disease": "ptosis (Disease Ontology:DOID:0060260); lymphedema-distichiasis syndrome (Disease Ontology:DOID:0111509); nephritis (Disease Ontology:DOID:10952); lymphedema (Disease Ontology:DOID:4977); eyelid disease (Disease Ontology:DOID:530); congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2303); (R-HSA-9761174); (R-HSA-9830674)", "pathway_count": 3, "publication_count": 42, "publication_id_list": "10669593;11078474;11371511;11499682;17081983;17924679;18220336;18452278;18669648;18691976;19413330;19651622;19664995;20068231;21406692;23186163;23878394;24357672;25218447;25576301;28179430;29393594;29557506;30429286;30484775;31222486;31844290;31848261;32938616;33592498;34171305;35051231;35580925;36010968;36241641;36805538;37072887;37705741;37938771;38580085;38608123;9169153", "class_list": "", "function": "Defects in vein valve PROX1/FOXC2 antithrombotic pathway in endothelial cells drive the hypercoagulable state induced by trauma and critical illness., [RefSeq, PubMed]; FOXC2-AS1/FOXC2 axis mediates matrix stiffness-induced trans-differentiation of hepatic stellate cells into fibrosis-promoting myofibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; The role of transcription factor FOXA1/C2/M1/O3/P1/Q1 in breast cancer., [RefSeq, PubMed]; This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional activator., [UniProtKB, PubMed]; Up-regulation of microRNA-183 reduces FOXO1 expression in gastric cancer patients with Helicobacter pylori infection., [RefSeq, PubMed]; Variants in FOXC1 and FOXC2 identified in patients with conotruncal heart defects., [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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "C6KMR9;Q14DA6", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000785 chromatin", "go_biological_process": "GO:0035470 positive regulation of vascular wound healing;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", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q99958-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWX5-1", "uniprot_id": [ { "id": "GATA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWX5", "type": "external" } ], "mass": 41299.0, "length": 397, "protein_name": "Transcription factor GATA-5", "gene_name": "GATA5", "organism": "Human", "refseq_name": "transcription factor GATA-5", "refseq_ac": [ { "id": "NP_536721", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_536721", "type": "external" } ], "gene_names_uniprotkb": "GATA5", "gene_names_refseq": "CHTD5; GATA5; GATAS; bB379O24.1", "protein_names_uniprotkb": "Transcription factor GATA-5; GATA-binding factor 5", "protein_names_refseq": "GATA binding factor-5; transcription factor GATA-5", "tax_id": 9606, "disease": "familial atrial fibrillation (Disease Ontology:DOID:0050650); atrial fibrillation (Disease Ontology:DOID:0060224); bicuspid aortic valve disease (Disease Ontology:DOID:0080332); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); dilated cardiomyopathy (Disease Ontology:DOID:12930); ventricular septal defect (Disease Ontology:DOID:1657); tetralogy of Fallot (Disease Ontology:DOID:6419); acute myocardial infarction (Disease Ontology:DOID:9408); congenital heart defects, multiple types, 5 (MONDO:MONDO:0060663)", "pathway": " (hsa:140628); (R-HSA-983231)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "11042108;11062261;11242053;11744692;11751636;11895428;11950885;12011060;12032298;12134158;12427746;15020713;15247287;15710388;16054028;1630448;17027967;17196961;19293402;20530532;20627800;218813;22483626;22641149;22961344;23031282;23175127;23289003;23295592;24573614;24638895;25543888;26845023;30379171;33684162;34019948;3409321;35040754;35534675;38432398;8662638;8816476;9065479;9230307;9326583;9331217;9422515;9927674", "class_list": "", "function": "Coexistent HCN4 and GATA5 Rare Variants and Atrial Fibrillation in a Large Spanish Family., [RefSeq, PubMed]; Demonstrate that GATA-5 and HNF-1alpha physically associate both in vivo and in vitro and that this interaction is necessary for cooperative activation of the lactase-phlorizin hydrolase promoter, [RefSeq, PubMed]; GATA binding protein 5 (GATA5) induces Rho GTPase activating protein 9 (ARHGAP9) to inhibit the malignant process of lung adenocarcinoma cells., [RefSeq, PubMed]; Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease., [RefSeq, PubMed]; Molecular genetic study on GATA5 gene promoter in acute myocardial infarction. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor required during cardiovascular development (PubMed:23289003). Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity). Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer (PubMed:25543888)., [UniProtKB, PubMed, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "D9ZGF7;Q17RE2;Q86VU4", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9BWX5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZ67-1", "uniprot_id": [ { "id": "FRMD8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZ67", "type": "external" } ], "mass": 51218.0, "length": 464, "protein_name": "FERM domain-containing protein 8", "gene_name": "FRMD8", "organism": "Human", "refseq_name": "FERM domain-containing protein 8 isoform 2", "refseq_ac": [ { "id": "NP_001287761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287761", "type": "external" } ], "gene_names_uniprotkb": "FRMD8; FKSG44", "gene_names_refseq": "FKSG44; FRMD8; iTAP", "protein_names_uniprotkb": "FERM domain-containing protein 8; Band4.1 inhibitor LRP interactor; Bili; iRhom tail-associated protein; iTAP", "protein_names_refseq": "FERM domain-containing protein 8 isoform 2; FERM domain-containing protein 8; band4.1 inhibitor LRP interactor; bili; iRhom Tail-Associated Protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:83786)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "11237011;18669648;19572019;19664995;20068231;23186163;23481700;24275569;24715725;25418920;25576301;25645385;26154972;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29786170;29789417;29897333;29897336;30315122;30410026;30429286;30779550;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33912179;33936100;33968037;34171305;34211107;34357683;34509645;34932366;35051231;35318648;35580925;36010968;36284347;37527040;37938771;38734674;39894887", "class_list": "", "function": "FRMD8 promotes inflammatory and growth factor signaling by stabilizing the iRhom2/ADAM17 sheddase complex. Publication Status: Online-Only, [RefSeq, PubMed]; FRMD8 targets both CDK4 activation and RB degradation to suppress colon cancer growth., [RefSeq, PubMed]; ITAP (FRMD8) is a novel iRhom2 interactor that controls TNF-alpha secretion by policing the stability of iRhom2/ADAM17 complex. Publication Status: Online-Only, [RefSeq, PubMed]; LINC01002 functions as a ceRNA to regulate FRMD8 by sponging miR-4324 for the development of COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes the cell surface stability of iRhom1/RHBDF1 and iRhom2/RHBDF2 and prevents their degradation via the endolysosomal pathway. By acting on iRhoms, involved in ADAM17-mediated shedding of TNF, amphiregulin/AREG, HBEGF and TGFA from the cell surface (PubMed:29897333, PubMed:29897336). Negatively regulates Wnt signaling, possibly by antagonizing the recruitment of AXIN1 to LRP6 (PubMed:19572019)., [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": 9, "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": "B4E2P1;Q86V56;Q8NCB5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0032760 positive regulation of tumor necrosis factor production", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9BZ67-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZ68-1", "uniprot_id": [ { "id": "FR8P1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZ68", "type": "external" } ], "mass": 41136.0, "length": 369, "protein_name": "Putative FERM domain-containing protein FRMD8P1", "gene_name": "FRMD8P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FRMD8P1; FKSG43", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative FERM domain-containing protein FRMD8P1; FERM domain-containing 8 pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "28904123;32502341;33912179", "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": "A1A4X4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0090090 negative regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9BZ68-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2C0-1", "uniprot_id": [ { "id": "GAN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2C0", "type": "external" } ], "mass": 67638.0, "length": 597, "protein_name": "Gigaxonin", "gene_name": "GAN", "organism": "Human", "refseq_name": "gigaxonin isoform 1", "refseq_ac": [ { "id": "NP_071324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071324", "type": "external" } ], "gene_names_uniprotkb": "GAN; GAN1; KLHL16", "gene_names_refseq": "GAN1; GAN; GIG; KLHL16", "protein_names_uniprotkb": "Gigaxonin; Kelch-like protein 16", "protein_names_refseq": "epididymis secretory sperm binding protein; gigaxonin isoform 1; kelch-like family member 16; kelch-like protein 16", "tax_id": 9606, "disease": "giant axonal neuropathy 1 (Disease Ontology:DOID:0090068)", "pathway": " (hsa:8139); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 169, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062483;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;11971098;12101228;12147674;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12655563;12682069;12759363;12816948;14528312;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15983046;16171779;16227972;16303566;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17081983;17132228;17183367;17220875;17332328;17497243;17578852;17587580;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19424503;19452197;19489725;19617556;19748355;19818708;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24627108;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25531226;25880248;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;28510447;28832583;28834231;28855257;28904123;29153394;29557506;30610225;31844290;31944090;32005965;32157095;32284348;32357974;32387766;32488085;32897882;32938616;33444648;33691108;33912179;33968037;34357683;34509645;34561969;35051231;35580925;35764747;37043392;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Gigaxonin is required for intermediate filament transport., [RefSeq, PubMed]; Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]., [RefSeq]; Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 0, "mined_o_glycosites": 2, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "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": "", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0007010 cytoskeleton organization;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 18.0, "record_id": "Q9H2C0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H706-1", "uniprot_id": [ { "id": "GARE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H706", "type": "external" } ], "mass": 97186.0, "length": 876, "protein_name": "GRB2-associated and regulator of MAPK protein 1", "gene_name": "GAREM1", "organism": "Human", "refseq_name": "GRB2-associated and regulator of MAPK protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001229338", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229338", "type": "external" } ], "gene_names_uniprotkb": "GAREM1; C18orf11; FAM59A; GAREM", "gene_names_refseq": "C18orf11; FAM59A; GAREM1; GAREM; Gm944", "protein_names_uniprotkb": "GRB2-associated and regulator of MAPK protein 1; GRB2-associated and regulator of MAPK1", "protein_names_refseq": "GRB2 associated regulator of MAPK1 1; GRB2 associated, regulator of MAPK1; GRB2-associated and regulator of MAPK protein 1 isoform 1; GRB2-associated and regulator of MAPK protein 1; GRB2-associated and regulator of MAPK1; Grb2-associated and regulator of Erk/MAPK; family with sequence similarity 59, member A; protein FAM59A", "tax_id": 9606, "disease": "", "pathway": " (hsa:64762)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;19509291;23186163;23882028;24003223;29242379;29557506;30429286;32157095;33981976;34087483;34171305;34185709;35051231;36084556;36241641", "class_list": "", "function": "Acts as an adapter protein that plays a role in intracellular signaling cascades triggered either by the cell surface activated epidermal growth factor receptor and/or cytoplasmic protein tyrosine kinases. Promotes activation of the MAPK/ERK signaling pathway. Plays a role in the regulation of cell proliferation., [UniProtKB, PubMed]; Data indicate that a subtype of GAREM, GAREM2, is specifically expressed in the mouse, rat, and human brain., [RefSeq, PubMed]; Extracellular signal-regulated kinase activation in response to epidermal growth factor stimulation is regulated by the expression of GAREM in COS-7 and HeLa cells., [RefSeq, PubMed]; GAREM1 is involved in controlling body mass in mice and humans., [RefSeq, PubMed]; This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 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": "Q0VAG3;Q0VAG4;Q8ND03;Q9BSF5", "ec_number_list": [], "go_molecular_function": "GO:0070064 proline-rich region binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0007173 epidermal growth factor receptor signaling pathway;GO:0051781 positive regulation of cell division;GO:0071364 cellular response to epidermal growth factor stimulus", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9H706-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCG7-1", "uniprot_id": [ { "id": "GBA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCG7", "type": "external" } ], "mass": 104649.0, "length": 927, "protein_name": "Non-lysosomal glucosylceramidase", "gene_name": "GBA2", "organism": "Human", "refseq_name": "non-lysosomal glucosylceramidase isoform 2", "refseq_ac": [ { "id": "NP_001317589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317589", "type": "external" } ], "gene_names_uniprotkb": "GBA2; AD035; KIAA1605; SPG46", "gene_names_refseq": "AD035; GBA2; NLGase; SPG46", "protein_names_uniprotkb": "Non-lysosomal glucosylceramidase; 2.4.1.-; 3.2.1.-; 3.2.1.45; 3.2.1.46; Beta-glucocerebrosidase 2; Beta-glucosidase 2; Bile acid beta-glucosidase GBA2; Bile acid glucosyl transferase GBA2; Cholesterol glucosyltransferase GBA2; Cholesteryl-beta-glucosidase GBA2; Glucosylceramidase 2; NLGase; Non-lysosomal cholesterol glycosyltransferase; Non-lysosomal galactosylceramidase; Non-lysosomal glycosylceramidase", "protein_names_refseq": "beta-glucocerebrosidase 2; bile acid beta-glucosidase GBA2; bile acid glucosyl transferase GBA2; cholesterol glucosyltransferase GBA2; cholesteryl-beta-glucosidase GBA2; glucosidase, beta (bile acid) 2; glucosylceramidase 2; non-lysosomal cholesterol glycosyltransferase; non-lysosomal galactosylceramidase; non-lysosomal glucosylceramidase isoform 2; non-lysosomal glucosylceramidase; non-lysosomal glycosylceramidase", "tax_id": 9606, "disease": "hereditary spastic paraplegia 46 (Disease Ontology:DOID:0110798)", "pathway": " (hsa:57704); (R-HSA-9840310)", "pathway_count": 2, "publication_count": 150, "publication_id_list": "10191093;10196694;10406958;10781797;10823942;10861246;10942779;10993717;11237011;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12885774;12888274;12909021;1352293;1352993;15003450;15213228;15458386;15714521;15773042;15845354;16229686;16230343;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17080196;17105727;1718266;1720305;1740330;1756715;1840600;18524657;1889421;1907800;1915858;19405096;19836391;2001789;20112406;20593214;20728381;23332916;23332917;23481700;235289;239890;24252062;25418920;2562955;26154972;26220345;26811146;26929215;26992070;2717620;28126847;28218747;28228285;28832583;29242379;29333001;29393594;29437277;29443946;29508533;29557506;2960521;29632046;2965147;29692406;2970528;2971395;29747811;2976757;29802621;3014515;30308956;30315122;30410026;30429286;3048308;30484775;30662006;30779550;31154438;3136930;31495489;3158659;31844290;31848261;32144204;32157095;32265295;32350084;32387766;32488085;32492073;32502341;32590105;32938616;33912179;33968037;34171305;34185709;3456607;35051231;36010968;36241641;36284347;37938771;39940;5135907;5164093;527942;5822067;7504405;7628016;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8804427;8889578;8955159;8985184;9111029;9217013;9338580;9520418;9521684", "class_list": "glycogene;glycosylhydrolase", "function": "Demonstrate that GBA2 plays a role in the proinflammatory state characterizing cystic fibrosis cells. Report for the first time that Pseudomonas aeruginosa infection causes a recruitment of plasma membrane-associated glycosphingolipid hydrolases into lipid rafts of CuFi-1-infected cells., [RefSeq, PubMed]; Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46., [RefSeq, PubMed]; Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) to free glucose and ceramides (such as N-acylsphing-4-enine) (PubMed:17105727, PubMed:30308956, PubMed:32144204). GlcCers are membrane glycosphingolipids that have a wide intracellular distribution (By similarity). They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties (By similarity). Involved in the transglucosylation of cholesterol, transfers glucose from GlcCer to cholesterol, thereby modifying its water solubility and biological properties (PubMed:32144204). Under specific conditions, may catalyze the reverse reaction, transferring glucose from cholesteryl-3-beta-D-glucoside to ceramide (such as N-acylsphing-4-enine) (Probable). May play a role in the metabolism of bile acids (PubMed:11489889, PubMed:17080196, PubMed:9111029). Able to hydrolyze bile acid 3-O-glucosides as well as to produce bile acid-glucose conjugates thanks to a bile acid glucosyl transferase activity (PubMed:11489889, PubMed:17080196, PubMed:9111029). Catalyzes the hydrolysis of galactosylceramides/GalCers (such as beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine), as well as the galactosyl transfer between GalCers and cholesterol in vitro with lower activity compared with their activity against GlcCers (PubMed:32144204)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Results shed light on the molecular mechanism underlying the pathogenesis of GBA2-related hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia (ARCA) and reveal species-specific differences in GBA2 function in vivo, [RefSeq, PubMed]; This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]., [RefSeq]; Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation. Publication Status: Online-Only, [RefSeq, PubMed]; We conclude that the c.1780G>C mutation results in NLGase loss of function with abolishment of the enzymatic activity and accumulation of GlcCer accompanied by a compensatory increase in GCase. 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": 1, "reported_glycation": 0, "reported_snv": 1024, "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": "D3DRP2;Q5TCV6;Q96A51;Q96LY1;Q96SJ2;Q9H2L8", "ec_number_list": [ { "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": "3.2.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.21", "type": "external" } ], "go_molecular_function": "GO:0004348 glucosylceramidase activity;GO:0008422 beta-glucosidase activity;GO:0046527 glucosyltransferase activity;GO:0004336 galactosylceramidase activity;GO:0050295 steryl-beta-glucosidase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005790 smooth endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006680 glucosylceramide catabolic process;GO:0008203 cholesterol metabolic process;GO:0005975 carbohydrate metabolic process;GO:0007417 central nervous system development;GO:0009247 glycolipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q9HCG7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000000.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NU39-1", "uniprot_id": [ { "id": "FX4L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NU39", "type": "external" } ], "mass": 43610.0, "length": 408, "protein_name": "Forkhead box protein D4-like 1", "gene_name": "FOXD4L1", "organism": "Human", "refseq_name": "forkhead box protein D4-like 1", "refseq_ac": [ { "id": "NP_036316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036316", "type": "external" } ], "gene_names_uniprotkb": "FOXD4L1", "gene_names_refseq": "FOXD4L1; FOXD5; bA395L14.1", "protein_names_uniprotkb": "Forkhead box protein D4-like 1; FOXD4-like 1", "protein_names_refseq": "FOXD4-like 1; forkhead box protein D4-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:200350)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "12421752;15233989;28871256;35051231;38253038", "class_list": "", "function": "This gene is a member of the forkhead/winged-helix (FOX) family of transcription factors with highly conserved FOX DNA-binding domains. Members of the FOX family of transcription factors are regulators of embryogenesis and may play a role in human cancer. This gene lies in a region of chromosome 2 that surrounds the site where two ancestral chromosomes fused to form human chromosome 2. This region is duplicated elsewhere in the human genome, primarily in subtelomeric and pericentromeric locations, thus mutiple copies of this gene have been found. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KWN1;B9EGF3", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO: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": 0.9, "record_id": "Q9NU39-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZU1-2", "uniprot_id": [ { "id": "FLRT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZU1", "type": "external" } ], "mass": 74088.0, "length": 674, "protein_name": "Leucine-rich repeat transmembrane protein FLRT1", "gene_name": "FLRT1", "organism": "Human", "refseq_name": "leucine-rich repeat transmembrane protein FLRT1 isoform 1", "refseq_ac": [ { "id": "NP_037412", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037412", "type": "external" } ], "gene_names_uniprotkb": "FLRT1; PRO1483", "gene_names_refseq": "FLRT1; SPG68", "protein_names_uniprotkb": "Leucine-rich repeat transmembrane protein FLRT1; Fibronectin-like domain-containing leucine-rich transmembrane protein 1", "protein_names_refseq": "fibronectin-like domain-containing leucine-rich transmembrane protein 1; leucine-rich repeat transmembrane protein FLRT1 isoform 1; leucine-rich repeat transmembrane protein FLRT1", "tax_id": 9606, "disease": "optic atrophy (Disease Ontology:DOID:5723)", "pathway": " (hsa:23769); (R-HSA-5654687)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "10.1101/2023.09.13.557529;10644439;12975309;14688794;16872596;20421966;30779550", "class_list": "", "function": "Plays a role in fibroblast growth factor-mediated signaling cascades that lead to the activation of MAP kinases. Promotes neurite outgrowth via FGFR1-mediated activation of downstream MAP kinases. Promotes an increase both in neurite number and in neurite length. May play a role in cell-cell adhesion and cell guidance via its interaction with ADGRL1/LPHN1 and ADGRL3., [UniProtKB, UniProtKB]; The phosphorylation state of FLRT1, which is itself FGFR1 dependent, may play a critical role in the potentiation of FGFR1 signalling and may also depend on a SFK-dependent phosphorylation mechanism acting via the FGFR Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [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": 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": 27, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0A6E1VY70;Q8WVA2", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005925 focal adhesion;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007155 cell adhesion;GO:0016358 dendrite development;GO:1990138 neuron projection extension;GO:0008543 fibroblast growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9NZU1-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2B2-1", "uniprot_id": [ { "id": "FPRP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2B2", "type": "external" } ], "mass": 98556.0, "length": 879, "protein_name": "Prostaglandin F2 receptor negative regulator", "gene_name": "PTGFRN", "organism": "Human", "refseq_name": "prostaglandin F2 receptor negative regulator precursor", "refseq_ac": [ { "id": "NP_065173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065173", "type": "external" } ], "gene_names_uniprotkb": "PTGFRN; CD9P1; EWIF; FPRP; KIAA1436", "gene_names_refseq": "CD315; CD9P-1; EWI-F; FPRP; PTGFRN; SMAP-6", "protein_names_uniprotkb": "Prostaglandin F2 receptor negative regulator; CD9 partner 1; CD9P-1; EWI-F; Glu-Trp-Ile EWI motif-containing protein F; Prostaglandin F2-alpha receptor regulatory protein; Prostaglandin F2-alpha receptor-associated protein", "protein_names_refseq": "CD9 partner 1; glu-Trp-Ile EWI motif-containing protein F; prostaglandin F2 receptor negative regulator precursor; prostaglandin F2 receptor negative regulator; prostaglandin F2-alpha receptor regulatory protein; prostaglandin F2-alpha receptor-associated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:5738)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11278880;17074750;17924679;17960739;19159218;20068231;23090970;23481700;23584533;24190977;25813380;27397612;28510447;29093164;29242379;29393594;29557506;29741879;29786170;29789417;30429286;30573663;30833945;31377205;31611695;31844290;31848261;32157095;32161166;32350084;32387766;32938616;32983136;33043033;33141586;33503070;33592498;34078123;35051231;35154160;35251023;35580925;36010968;36215666;36241641;36284347;37074911;38253038;40596516", "class_list": "", "function": "High PTGFRN expression is associated with glioblastoma multiforme., [RefSeq, PubMed]; Identification of Prostaglandin F2 Receptor Negative Regulator (PTGFRN) as an internalizable target in cancer cells for antibody-drug conjugate development. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits the binding of prostaglandin F2-alpha (PGF2-alpha) to its specific FP receptor, by decreasing the receptor number rather than the affinity constant. Functional coupling with the prostaglandin F2-alpha receptor seems to occur (By similarity). In myoblasts, associates with tetraspanins CD9 and CD81 to prevent myotube fusion during muscle regeneration (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 9, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 81, "disease_count": 0, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "Q5VVU9;Q8N2K6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0009986 cell surface;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0014905 myoblast fusion involved in skeletal muscle regeneration", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q9P2B2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBC7-1", "uniprot_id": [ { "id": "GALP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBC7", "type": "external" } ], "mass": 12545.0, "length": 116, "protein_name": "Galanin-like peptide", "gene_name": "GALP", "organism": "Human", "refseq_name": "galanin-like peptide isoform 2 precursor", "refseq_ac": [ { "id": "NP_001139018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139018", "type": "external" } ], "gene_names_uniprotkb": "GALP", "gene_names_refseq": "GALP; GAL", "protein_names_uniprotkb": "Galanin-like peptide", "protein_names_refseq": "alarin; gal-like peptide; galanin-like peptide isoform 2 precursor", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:85569)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10601261;11861493;16787232;16954604;17535903;23537644;31530632;35174578;35436912;37155301", "class_list": "", "function": "Alarin: A new predictive marker in infertile women with polycystic ovary syndrome: A case-control study., [RefSeq, PubMed]; Describes cloning of the full-length human GALP, [RefSeq, PubMed]; Describes the gene structure of human GALP., [RefSeq, PubMed]; Exhibits potent and dose-dependent vasoconstrictor and anti-edema activity in the cutaneous microvasculature, a physiologic effects which does not appear to be mediated via GALR1 or GALR2. Exhibits antimicrobial activity against Gram-negative bacterias, inducing bacterial membrane blebbing (PubMed:23537644)., [UniProtKB, PubMed]; Galanin-like peptide and its correlation with androgen levels in patients with polycystic ovary syndrome., [RefSeq, PubMed]; Hypothalamic neuropeptide which binds to the G-protein-coupled galanin receptors (GALR1, GALR2 and GALR3). Involved in a large number of putative physiological functions in CNS homeostatic processes, including the regulation of gonadotropin-releasing hormone secretion., [UniProtKB]; One isoform (alarin) of this gene but not the other (galanin-like peptide) displays antimicrobial activity against E. coli., [RefSeq, PubMed]; Plasma and aqueous levels of alarin and adipsin in patients with and without diabetic retinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Reports immunostaining of human GALP in the dermal microvasculature., [RefSeq, PubMed]; This gene encodes a member of the galanin family of neuropeptides. The encoded protein binds galanin receptors 1, 2 and 3 with the highest affinity for galanin receptor 3 and has been implicated in biological processes involving the central nervous system including hypothalamic regulation of metabolism and reproduction. A peptide encoded by a splice variant of this gene, termed alarin, has vasoactive properties, displays antimicrobial activity against E. coli, and may serve as a marker for neuroblastic tumors.[provided by RefSeq, Nov 2014]., [RefSeq]; This review presents considerable evidence that has accumulated implicating both galanin and GALP as playing important roles in regulating food and water intake behavior and related neuroendocrine functions. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1KXL3", "ec_number_list": [], "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0042595 behavioral response to starvation;GO:0007218 neuropeptide signaling pathway;GO:0050829 defense response to Gram-negative bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0032868 response to insulin", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9UBC7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2H6-1", "uniprot_id": [ { "id": "FND3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2H6", "type": "external" } ], "mass": 131852.0, "length": 1198, "protein_name": "Fibronectin type-III domain-containing protein 3A", "gene_name": "FNDC3A", "organism": "Human", "refseq_name": "fibronectin type-III domain-containing protein 3A isoform 1", "refseq_ac": [ { "id": "NP_001073141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073141", "type": "external" } ], "gene_names_uniprotkb": "FNDC3A; FNDC3; HUGO; KIAA0970", "gene_names_refseq": "FNDC3A; FNDC3; HUGO; bA203I16.1; bA203I16.5", "protein_names_uniprotkb": "Fibronectin type-III domain-containing protein 3A; Human gene expressed in odontoblasts", "protein_names_refseq": "fibronectin type-III domain-containing protein 3A isoform 1; fibronectin type-III domain-containing protein 3A; human gene expressed in odontoblasts", "tax_id": 9606, "disease": "", "pathway": " (hsa:22862)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17081983;17287340;18218838;18669648;18767875;19413330;19608861;19651622;20068231;23186163;23639254;24275569;24714562;24715725;25576301;25880248;25892735;26154972;26375851;26992070;27600516;27846572;27920218;28228285;28832583;28904123;29093164;29242379;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32963011;32966780;32983136;33141586;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35580925;36010968;36284347;37938771;38665916", "class_list": "", "function": "FAM46C and FNDC3A Are Multiple Myeloma Tumor Suppressors That Act in Concert to Impair Clearing of Protein Aggregates and Autophagy., [RefSeq, PubMed]; Mediates spermatid-Sertoli adhesion during spermatogenesis., [UniProtKB]; The Interaction of the Tumor Suppressor FAM46C with p62 and FNDC3 Proteins Integrates Protein and Secretory Homeostasis., [RefSeq, PubMed]; The results of this study concluded that FNDC3A influences the prevalence of autism spectrum disorder., [RefSeq, PubMed]; We report the 1st characterization of new gene we named HUGO, and its associated deduced protein sequence. HUGO proteins are mainly composed of a proline-rich region at N-terminus, 8 type III-fibronectin modules, and transmembranous helix at C-terminus., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DYG1;Q5HYC9;Q5JVF8;Q5JVF9;Q6EVH3;Q6EVH4;Q6N020;Q6P9D5;Q6ZME4;Q9H1W1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9Y2H6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D1Z8-1", "uniprot_id": [ { "id": "GRIFN_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D1Z8", "type": "external" } ], "mass": 15999.0, "length": 144, "protein_name": "Grifin", "gene_name": "GRIFIN", "organism": "Human", "refseq_name": "grifin", "refseq_ac": [ { "id": "NP_001381716", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001381716", "type": "external" } ], "gene_names_uniprotkb": "GRIFIN", "gene_names_refseq": "GRIFIN", "protein_names_uniprotkb": "Grifin; Galectin-related inter-fiber protein", "protein_names_refseq": "grifin; putative grifin", "tax_id": 9606, "disease": "", "pathway": " (hsa:402635)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "18087242;18448074;34946854", "class_list": "glycogene", "function": "Transcriptomics Analysis of Lens from Patients with Posterior Subcapsular Congenital Cataract. 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": 206, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WXP5", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A4D1Z8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NC78-1", "uniprot_id": [ { "id": "GOG8I_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NC78", "type": "external" } ], "mass": 71330.0, "length": 632, "protein_name": "Putative golgin subfamily A member 8I", "gene_name": "GOLGA8IP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GOLGA8IP; GOLGA8I; GOLGA9P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative golgin subfamily A member 8I; Golgin subfamily A member 8I pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "32488085", "class_list": "", "function": "May be involved in maintaining Golgi structure., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032580 Golgi cisterna membrane;GO:0005801 cis-Golgi network;GO:0000137 Golgi cis cisterna", "go_biological_process": "GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NC78-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDK9-1", "uniprot_id": [ { "id": "GOG6C_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDK9", "type": "external" } ], "mass": 79884.0, "length": 693, "protein_name": "Golgin subfamily A member 6C", "gene_name": "GOLGA6C", "organism": "Human", "refseq_name": "golgin subfamily A member 6C", "refseq_ac": [ { "id": "NP_001157876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157876", "type": "external" } ], "gene_names_uniprotkb": "GOLGA6C", "gene_names_refseq": "GOLGA6C", "protein_names_uniprotkb": "Golgin subfamily A member 6C", "protein_names_refseq": "golgi autoantigen, golgin subfamily a, 6C; golgin subfamily A member 6C; putative golgin subfamily A member 6C", "tax_id": 9606, "disease": "", "pathway": " (hsa:653641)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "24715725;32387766", "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": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032580 Golgi cisterna membrane;GO:0005801 cis-Golgi network;GO:0000137 Golgi cis cisterna", "go_biological_process": "GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NDK9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDN3-1", "uniprot_id": [ { "id": "GOG6B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDN3", "type": "external" } ], "mass": 79913.0, "length": 693, "protein_name": "Golgin subfamily A member 6B", "gene_name": "GOLGA6B", "organism": "Human", "refseq_name": "golgin subfamily A member 6B", "refseq_ac": [ { "id": "NP_061122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061122", "type": "external" } ], "gene_names_uniprotkb": "GOLGA6B; GOLGA", "gene_names_refseq": "GOLGA6B", "protein_names_uniprotkb": "Golgin subfamily A member 6B", "protein_names_refseq": "golgi autoantigen, golgin subfamily a, 6B; golgin subfamily A member 6B; golgin-like protein; putative golgin subfamily A member 6B", "tax_id": 9606, "disease": "", "pathway": " (hsa:55889)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "29557506;37508488", "class_list": "", "function": "Golgi Apparatus Target Proteins in Gastroenterological Cancers: A Comprehensive Review of GOLPH3 and GOLGA Proteins. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus. The majority of the related gene copies are thought to be transcribed pseudogenes. It is not known whether this gene is a pseudogene or if it encodes a golgin 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": 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": "A8MYY7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032580 Golgi cisterna membrane;GO:0005801 cis-Golgi network;GO:0000137 Golgi cis cisterna", "go_biological_process": "GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NDN3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NH11-1", "uniprot_id": [ { "id": "GLTD2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NH11", "type": "external" } ], "mass": 31642.0, "length": 291, "protein_name": "Glycolipid transfer protein domain-containing protein 2", "gene_name": "GLTPD2", "organism": "Human", "refseq_name": "glycolipid transfer protein domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001014985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014985", "type": "external" } ], "gene_names_uniprotkb": "GLTPD2", "gene_names_refseq": "GLTPD2", "protein_names_uniprotkb": "Glycolipid transfer protein domain-containing protein 2", "protein_names_refseq": "glycolipid transfer protein domain-containing protein 2 isoform 1; glycolipid transfer protein domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:388323)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10.1038/emboj.2013.79;19159218;23584533;29557506;35051231;35494241;37340703", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A7E2T2", "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:0035627 ceramide transport;GO:0032691 negative regulation of interleukin-1 beta production;GO:0120009 intermembrane lipid transfer", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "A6NH11-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MTJ3-1", "uniprot_id": [ { "id": "GNAT3_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MTJ3", "type": "external" } ], "mass": 40357.0, "length": 354, "protein_name": "Guanine nucleotide-binding protein G(t) subunit alpha-3", "gene_name": "GNAT3", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(t) subunit alpha-3", "refseq_ac": [ { "id": "NP_001095856", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095856", "type": "external" } ], "gene_names_uniprotkb": "GNAT3", "gene_names_refseq": "GDCA; GNAT3; HG1E", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(t) subunit alpha-3; Gustducin alpha-3 chain", "protein_names_refseq": "guanine nucleotide binding protein, alpha transducing 3; guanine nucleotide-binding protein G(t) subunit alpha-3; gustatory G protein; gustducin alpha-3 chain; gustducin, alpha polypeptide; heterotrimeric guanine nucleotide-binding protein 1E", "tax_id": 9606, "disease": "McCune Albright syndrome (Disease Ontology:DOID:1858)", "pathway": " (hsa:346562); (R-HSA-170670); (R-HSA-381771); (R-HSA-392170); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-9009391); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9717207)", "pathway_count": 11, "publication_count": 260, "publication_id_list": "10319328;10427092;10496952;10714768;10749889;10761935;10806474;10954748;11007482;11029009;11029403;11043579;11044445;11185956;11196645;11313909;11369763;11564718;11689445;11773440;11773442;11773443;11825873;11917125;11978683;11981029;12015988;12036966;12048194;12058044;12106601;12120503;12180353;12388769;12421825;12431978;12511868;12540594;12560222;12588983;12651102;12682286;12808053;12810581;12860470;12881510;1325650;1325798;1347957;13549488;1378832;14573771;14634208;14671004;14675202;14719035;14719797;14764897;1499644;15033483;15044318;15090535;15126524;1517224;15231873;15245432;15314172;15353592;15385606;15467163;15496458;15539556;15569929;15584901;15619630;15657067;15705661;15705806;15738140;15765929;15769620;15951850;15956360;16219666;16239258;16274718;16313925;1658606;16634148;16636149;16645038;16687412;16728727;16835357;16923326;17021831;17037979;17065399;17167479;17168849;17230639;17379646;17424910;17506496;17525128;17535799;17681422;17724330;17724332;17916740;17921256;18044684;18206197;18434541;18519800;18566127;18577758;18657504;19001044;19104071;19105585;19138696;19342448;1939224;19696921;19741198;19876791;19879889;19929708;19931550;20022913;20033988;20381629;20439495;20650261;20861220;21036126;21422378;2163110;21680538;21795555;21844907;21851428;22028449;22031296;22266855;22446104;22495674;23632330;24039841;24157691;2417744;24214976;24273487;24360415;24530924;24633359;24687066;2491850;24962572;2534964;2553411;2553705;25587652;25853419;26190834;26377607;26417854;26987903;27288742;27392633;2748346;27846572;28228285;28256214;2834384;28450397;28502923;28539435;28595943;2871555;28832583;28834231;29351928;29393594;29443750;29466837;29602314;29659026;29738483;29744740;29786170;30013099;30315122;30563861;30828317;30833991;3127824;31279028;31399091;31844290;31983287;32138214;32226383;32357974;32387766;32488085;32497535;32540603;32618402;32715661;33049737;33537174;34185709;34338041;34860335;34972209;37938771;3841689;38600377;38665916;38776963;3900195;6085243;7526779;7559455;7568118;7595566;7651538;7720699;7750475;7883856;7937899;8007951;8015379;8100523;8119955;8288584;8327893;8340388;8406495;8514797;8522976;8527267;8554519;8598224;8672451;8702633;8782602;8798518;8876252;9065781;9173876;9263355;9395517;9417641;9565625;9616126;9651336;9865521", "class_list": "", "function": "Candidate Gene of NOS3, MMP3, AGT, and AGT1R and Pathway Analyses for Platelet Reactivity and Clinical Outcomes of Repeat Revascularization After First PCI in Chinese Patients., [RefSeq, PubMed]; Guanine nucleotide-binding protein (G protein) alpha subunit playing a prominent role in bitter and sweet taste transduction as well as in umami (monosodium glutamate, monopotassium glutamate, and inosine monophosphate) taste transduction (PubMed:38600377, PubMed:38776963). Transduction by this alpha subunit involves coupling of specific cell-surface receptors with a cGMP-phosphodiesterase; Activation of phosphodiesterase lowers intracellular levels of cAMP and cGMP which may open a cyclic nucleotide-suppressible cation channel leading to influx of calcium, ultimately leading to release of neurotransmitter. Indeed, denatonium and strychnine induce transient reduction in cAMP and cGMP in taste tissue, whereas this decrease is inhibited by GNAT3 antibody. Gustducin heterotrimer transduces response to bitter and sweet compounds via regulation of phosphodiesterase for alpha subunit, as well as via activation of phospholipase C for beta and gamma subunits, with ultimate increase inositol trisphosphate and increase of intracellular Calcium. GNAT3 can functionally couple to taste receptors to transmit intracellular signal: receptor heterodimer TAS1R2/TAS1R3 senses sweetness and TAS1R1/TAS1R3 transduces umami taste, whereas the T2R family GPCRs such as TAS2R14 act as bitter sensors (PubMed:38600377, PubMed:38776963). Also functions as lumenal sugar sensors in the gut to control the expression of the Na+-glucose transporter SGLT1 in response to dietaty sugar, as well as the secretion of Glucagon-like peptide-1, GLP-1 and glucose-dependent insulinotropic polypeptide, GIP. Thus, may modulate the gut capacity to absorb sugars, with implications in malabsorption syndromes and diet-related disorders including diabetes and obesity., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Intestinal alteration of alpha-gustducin and sweet taste signaling pathway in metabolic diseases is partly rescued after weight loss and diabetes remission., [RefSeq, PubMed]; Oral Microbiota Profile Associates with Sugar Intake and Taste Preference Genes. Publication Status: Online-Only, [RefSeq, PubMed]; Sweet, bitter, and umami tastes are transmitted from taste receptors by a specific guanine nucleotide binding protein. The protein encoded by this gene is the alpha subunit of this heterotrimeric G protein, which is found not only in the oral epithelium but also in gut tissues. Variations in this gene have been linked to metabolic syndrome. [provided by RefSeq, Dec 2015]., [RefSeq]; Worldwide diversity, association potential, and natural selection in the superimposed taste genes, CD36 and GNAT3., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D1B2;A4D1B3;B9EJG5", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0001664 G protein-coupled receptor binding;GO:0031683 G-protein beta/gamma-subunit complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0001669 acrosomal vesicle;GO:0005930 axoneme", "go_biological_process": "GO:0035094 response to nicotine;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway;GO:0007603 phototransduction, visible light;GO:0050908 detection of light stimulus involved in visual perception;GO:0050916 sensory perception of sweet taste", "synthesized_glycan_count": 0, "hit_score": 26.4, "record_id": "A8MTJ3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15421-1", "uniprot_id": [ { "id": "GLPE_HUMAN", "url": "https://www.uniprot.org/uniprot/P15421", "type": "external" } ], "mass": 8463.0, "length": 78, "protein_name": "Glycophorin-E", "gene_name": "GYPE", "organism": "Human", "refseq_name": "glycophorin-E precursor", "refseq_ac": [ { "id": "NP_002093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002093", "type": "external" } ], "gene_names_uniprotkb": "GYPE; GPE", "gene_names_refseq": "GPE; GYPE; MNS; MiIX", "protein_names_uniprotkb": "Glycophorin-E", "protein_names_refseq": "glycophorin-E precursor; glycophorin-E", "tax_id": 9606, "disease": "", "pathway": " (hsa:2996)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;2249783;2295603;2390989;26992070;32394466;32600246;7798177", "class_list": "", "function": "Novel hybrid genes and a splice site mutation encoding the St(a) antigen among Japanese blood donors., [RefSeq, PubMed]; Structural variation of the malaria-associated human glycophorin A-B-E region. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; This protein is a minor sialoglycoprotein in human erythrocyte membranes., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "D3DNZ5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P15421-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJJ9-1", "uniprot_id": [ { "id": "GNPTG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJJ9", "type": "external" } ], "mass": 33974.0, "length": 305, "protein_name": "N-acetylglucosamine-1-phosphotransferase subunit gamma", "gene_name": "GNPTG", "organism": "Human", "refseq_name": "N-acetylglucosamine-1-phosphotransferase subunit gamma precursor", "refseq_ac": [ { "id": "NP_115909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115909", "type": "external" } ], "gene_names_uniprotkb": "GNPTG; C16orf27; CAB56184; GNPTAG; LP2537", "gene_names_refseq": "C16orf27; GNPTAG; GNPTG; LP2537; RJD9", "protein_names_uniprotkb": "N-acetylglucosamine-1-phosphotransferase subunit gamma; GlcNAc-1-phosphotransferase subunit gamma; UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma", "protein_names_refseq": "N-acetylglucosamine-1-phosphate transferase gamma subunit; N-acetylglucosamine-1-phosphotransferase subunit gamma precursor; UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma; glcNAc-1-phosphotransferase subunit gamma", "tax_id": 9606, "disease": "mucolipidosis III gamma (Disease Ontology:DOID:0080678); glycoproteinosis (Disease Ontology:DOID:3343)", "pathway": " (hsa:84572)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "40667337;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10712439;11237011;15060128;15498874;15532026;19370764;19659762;19955174;20068231;20147709;21173149;22299025;23481700;23584533;24190977;24316125;25813380;26108976;27038293;27846572;27862975;28218747;28467828;28649982;28834231;28855257;29242379;29317506;29437277;30315122;30459171;31092671;31154438;31611695;31844290;32125861;32350084;32387766;32651481;32938616;33507475;33592498;33968037;34116066;34171305;34341521;34357683;34433824;35051231;35251023;36241641;37074911", "class_list": "glycogene", "function": "Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity., [RefSeq, PubMed]; Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III., [RefSeq, PubMed]; Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III., [RefSeq, PubMed]; The mutational spectrum of the GNPTG gene is strongly influenced by the properties of the local DNA sequence environment., [RefSeq, PubMed]; This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]., [RefSeq]; UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 668, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 21, "disease_count": 2, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B2R556;Q6XYD7;Q96L13", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome;GO:0005576 extracellular region", "go_biological_process": "GO:0016256 N-glycan processing to lysosome;GO:0046835 carbohydrate phosphorylation", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q9UJJ9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "H3BSY2-1", "uniprot_id": [ { "id": "GOG8M_HUMAN", "url": "https://www.uniprot.org/uniprot/H3BSY2", "type": "external" } ], "mass": 71498.0, "length": 632, "protein_name": "Golgin subfamily A member 8M", "gene_name": "GOLGA8M", "organism": "Human", "refseq_name": "golgin subfamily A member 8M", "refseq_ac": [ { "id": "NP_001269397", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269397", "type": "external" } ], "gene_names_uniprotkb": "GOLGA8M", "gene_names_refseq": "GOLGA8M", "protein_names_uniprotkb": "Golgin subfamily A member 8M", "protein_names_refseq": "Putative golgin subfamily A member 6-like protein 7; golgin subfamily A member 8M", "tax_id": 9606, "disease": "", "pathway": " (hsa:653720)", "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": 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": "A6NCM5;F8WBD5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032580 Golgi cisterna membrane;GO:0005801 cis-Golgi network;GO:0000137 Golgi cis cisterna", "go_biological_process": "GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "H3BSY2-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13588-1", "uniprot_id": [ { "id": "GRAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13588", "type": "external" } ], "mass": 25337.0, "length": 217, "protein_name": "GRB2-related adapter protein", "gene_name": "GRAPL; GRAP", "organism": "Human", "refseq_name": "GRB2-related adapter protein isoform 2", "refseq_ac": [ { "id": "NP_001317077", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317077", "type": "external" } ], "gene_names_uniprotkb": "GRAPL; GRAP; GRAP", "gene_names_refseq": "DFNB114; GRAP", "protein_names_uniprotkb": "GRB2-related adapter protein", "protein_names_refseq": "GRB2-related adapter protein isoform 2; GRB2-related adapter protein; growth factor receptor-bound protein 2-related adaptor protein", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 114 (Disease Ontology:DOID:0111642)", "pathway": " (hsa:10750); (R-HSA-1433557)", "pathway_count": 2, "publication_count": 113, "publication_id_list": "10358045;10377264;10397721;10523831;10523834;10679268;10884405;11237011;11395417;11494148;11520784;11707405;11809791;12062105;12192036;12660731;12824176;12878163;1371879;1375232;1381360;15104674;15143187;15526160;16115862;16129412;16483568;16737840;16873377;1721591;17255936;17344430;17662946;18697750;20304997;21209280;23481700;24714562;25418920;25645385;26154972;26375851;26728094;26811146;26992070;27536065;27622074;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29364705;29371260;29393594;29493099;29508533;29557506;29632046;29632711;29704617;29786170;29964125;30315122;30610177;31085175;31154438;31844290;31848261;32350084;32357974;32502341;32983136;33298915;33392160;33691108;33717175;33912179;34185709;34357683;34932366;35051231;35154160;35580925;35972996;36284347;37938771;7506952;7509796;7523381;7526158;7536744;7680037;8611693;8636116;8647802;8695790;8774734;8950973;8990121;9038210;9045650;9111318;9256427;9355737;9446650;9484780;9489702;9799234;9872323", "class_list": "", "function": "Couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. Plays a role in the inner ear and in hearing (PubMed:30610177)., [UniProtKB, PubMed]; Findings suggest that the miR-654-5p/GRAP/Ras/Erk signaling pathway in OSCC cells might contribute to the underlying mechanism through which miR-654-5p participates in the regulation of OSCC progression., [RefSeq, PubMed]; M(6)A Modification-mediated GRAP Regulates Vascular Remodeling in Hypoxic Pulmonary Hypertension., [RefSeq, PubMed]; The function of the growth factor receptor-bound protein 2 (GRB2)-related adaptor protein (GRAP) in the auditory system is not known., [RefSeq, PubMed]; This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0005154 epidermal growth factor receptor binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0098793 presynapse", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0007265 Ras protein signal transduction;GO:0007605 sensory perception of sound;GO:0043408 regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q13588-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15228-1", "uniprot_id": [ { "id": "GNPAT_HUMAN", "url": "https://www.uniprot.org/uniprot/O15228", "type": "external" } ], "mass": 77188.0, "length": 680, "protein_name": "Dihydroxyacetone phosphate acyltransferase", "gene_name": "GNPAT", "organism": "Human", "refseq_name": "dihydroxyacetone phosphate acyltransferase isoform 2", "refseq_ac": [ { "id": "NP_001303279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303279", "type": "external" } ], "gene_names_uniprotkb": "GNPAT; DAPAT; DHAPAT", "gene_names_refseq": "DAP-AT; DAPAT; DHAPAT; GNPAT; RCDP2", "protein_names_uniprotkb": "Dihydroxyacetone phosphate acyltransferase; 2.3.1.42; Acyl-CoA:dihydroxyacetonephosphateacyltransferase; DAP-AT; DAPAT; DHAP-AT; Glycerone-phosphate O-acyltransferase", "protein_names_refseq": "DHAP-AT; acyl-CoA:dihydroxyacetonephosphateacyltransferase; dihydroxyacetone phosphate acyltransferase isoform 2; dihydroxyacetone phosphate acyltransferase; glycerone-phosphate O-acyltransferase", "tax_id": 9606, "disease": "rhizomelic chondrodysplasia punctata type 2 (Disease Ontology:DOID:0110852); disease of mental health (Disease Ontology:DOID:150)", "pathway": " (hsa:8443); (R-HSA-1483166); (R-HSA-75896); (R-HSA-9033241)", "pathway_count": 4, "publication_count": 197, "publication_id_list": "10022913;10215861;10395968;10415121;10455175;10506173;10553003;10562279;10673331;10681567;10692424;11031251;11101887;11112443;11152660;11237011;11237722;11546814;11781871;11788596;11830583;11931631;12063250;12161451;12359733;12456682;12522102;12559034;12578380;12717447;12885776;12963729;14573790;15367102;15545321;15687349;15858711;16460752;16495223;16620771;16704971;16854980;16864775;17007944;17028579;17170135;17707131;17726030;18238778;18359941;18712838;18718904;19197237;19208625;19336658;19584060;19608861;19632994;19666841;20112406;20178365;20705608;21173190;21554508;21976670;21980954;21990100;22002062;22057399;22371489;22424782;22747494;22777291;22863804;22922100;23176821;23176823;2335525;23481700;23807634;23963456;24235149;24715725;24865970;24966474;25016021;25418920;25538232;25576301;25645385;25854684;26086376;26138649;26154972;26220973;26344566;26711011;26811146;26992070;27597759;27600516;27846572;27920218;28218747;28228285;28425416;28514659;28521612;28611990;28765278;28787099;28832583;28834231;28904123;29242379;2925608;29393594;29437277;29493099;29557506;29769354;30143522;30315122;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31974474;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32652459;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34405274;34509645;34561969;3458202;34725712;35051231;35154160;35580925;36010968;36161951;36241641;7060561;7719337;7790377;7821823;8163052;8186247;8300559;8530346;8687421;8824437;8858165;8991089;9090381;9090382;9090383;9188469;9212163;9459311;9461603;9536089;9539740;9582313;9653144;9668159;9837948", "class_list": "", "function": "Dihydroxyacetonephosphate acyltransferase catalyzing the first step in the biosynthesis of plasmalogens, a subset of phospholipids that differ from other glycerolipids by having an alkyl chain attached through a vinyl ether linkage at the sn-1 position of the glycerol backbone, and which unique physical properties have an impact on various aspects of cell signaling and membrane biology., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; GNPAT and USP30-mediated stabilization of DRP1 play a critical role in the development of hepatocellular carcinoma, [RefSeq, PubMed]; GNPAT rs11558492 is not a major modifier of iron status and is not associated with liver fibrosis in HFE-related Hemochromatosis patients., [RefSeq, PubMed]; Genetic adaptation of skin pigmentation in highland Tibetans., [RefSeq, PubMed]; Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels., [RefSeq, PubMed]; Stabilization of FASN by ACAT1-mediated GNPAT acetylation promotes lipid metabolism and hepatocarcinogenesis., [RefSeq, PubMed]; This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DNM9;Q5TBH7;Q9BWC2", "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": "2.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.26", "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:0016287 glycerone-phosphate O-acyltransferase activity;GO:0008374 O-acyltransferase activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005782 peroxisomal matrix;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006654 phosphatidic acid biosynthetic process;GO:0008611 ether lipid biosynthetic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 20.0, "record_id": "O15228-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15529-1", "uniprot_id": [ { "id": "GPR42_HUMAN", "url": "https://www.uniprot.org/uniprot/O15529", "type": "external" } ], "mass": 38665.0, "length": 346, "protein_name": "G protein-coupled receptor 42", "gene_name": "GPR42", "organism": "Human", "refseq_name": "G-protein coupled receptor 42", "refseq_ac": [ { "id": "NP_001335124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335124", "type": "external" } ], "gene_names_uniprotkb": "GPR42; GPR42P", "gene_names_refseq": "FFAR1L; FFAR3L; GPR41L; GPR42P; GPR42", "protein_names_uniprotkb": "G protein-coupled receptor 42", "protein_names_refseq": "G-protein coupled receptor 42; G-protein coupled receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:2866)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12496283;19630535;26260360;9344866", "class_list": "", "function": "G protein-coupled receptor that is activated by short chain fatty acids (SCFAs), such as propionate. Hence may play a role in the regulation of whole-body energy homeostasis and/or in intestinal immunity., [UniProtKB, PubMed]; Our data suggest that GPR42 be reclassified as a functioning gene and that recognition of sequence and copy number polymorphism of the FFAR3/GPR42 complex be considered during genetic and pharmacological investigation of these receptors. Publication Status: Online-Only, [RefSeq, PubMed]; Study presents evidence showing that the six amino acid differences, including that R/W174 are polymorphisms rather than gene-specific differences between GPR41 and GPR42., [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": 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:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "O15529-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43292-1", "uniprot_id": [ { "id": "GPAA1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43292", "type": "external" } ], "mass": 67623.0, "length": 621, "protein_name": "GPI-anchor transamidase component GPAA1", "gene_name": "GPAA1", "organism": "Human", "refseq_name": "GPI-anchor transamidase component GPAA1", "refseq_ac": [ { "id": "NP_003792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792", "type": "external" } ], "gene_names_uniprotkb": "GPAA1; GAA1", "gene_names_refseq": "GAA1; GPAA1; GPIBD15; hGAA1", "protein_names_uniprotkb": "GPI-anchor transamidase component GPAA1; GAA1 protein homolog; GPI anchor attachment protein 1; Glycosylphosphatidylinositol anchor attachment 1 protein; hGAA1", "protein_names_refseq": "GAA1 protein homolog; GPAA1P anchor attachment protein 1 homolog; GPI anchor attachment protein 1; GPI transamidase subunit; GPI-anchor transamidase component GPAA1; anchor attachment protein 1 (Gaa1p, yeast) homolog; glycophosphatidylinositol anchor attachment 1; glycosylphosphatidylinositol anchor attachment 1 protein; glycosylphosphatidylinositol anchor attachment protein 1 homolog", "tax_id": 9606, "disease": "glycosylphosphatidylinositol biosynthesis defect 15 (MONDO:MONDO:0060627)", "pathway": " (hsa:8733); (R-HSA-162791)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10393431;11237011;11483512;12802054;17081983;22424782;23481700;24715725;25418920;25548167;25576301;25892735;26154972;26375851;26758079;26811146;26992070;27397612;27600516;27846572;27920218;28218747;28228285;28446606;28514659;28832583;28834231;28904123;29100095;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30429286;30524438;30779550;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33968037;33981976;34087483;34357683;34405274;34509645;34576938;34932366;35051231;35165458;35318648;35551457;35561310;35580925;36010968;36215666;36241641;36284347;37684232;37938771;9356492;9468317", "class_list": "glycogene", "function": "Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis (PubMed:11483512, PubMed:29100095, PubMed:34576938, PubMed:35165458, PubMed:35551457, PubMed:37684232, PubMed:9468317). Binds GPI-anchor (PubMed:37684232)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [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": 1, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 976, "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": "Q9NSS0;Q9UQ31", "ec_number_list": [], "go_molecular_function": "GO:0034235 GPI anchor binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0042765 GPI-anchor transamidase complex", "go_biological_process": "GO:0006621 protein retention in ER lumen;GO:0006506 GPI anchor biosynthetic process;GO:0016255 attachment of GPI anchor to protein;GO:0180046 GPI anchored protein biosynthesis", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "O43292-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01148-1", "uniprot_id": [ { "id": "GON1_HUMAN", "url": "https://www.uniprot.org/uniprot/P01148", "type": "external" } ], "mass": 10380.0, "length": 92, "protein_name": "Progonadoliberin-1", "gene_name": "GNRH1", "organism": "Human", "refseq_name": "progonadoliberin-1 isoform 2 preproprotein", "refseq_ac": [ { "id": "NP_001076580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076580", "type": "external" } ], "gene_names_uniprotkb": "GNRH1; GNRH; GRH; LHRH", "gene_names_refseq": "GNRH1; GNRH; GRH; LHRH; LNRH", "protein_names_uniprotkb": "Progonadoliberin-1; GnRH-I; GnRH-associated peptide I; Gonadoliberin I; Gonadorelin; Gonadotropin-releasing hormone I; LH-RH I; Luliberin I; Luteinizing hormone-releasing hormone I; Progonadoliberin I", "protein_names_refseq": "GnRH-associated peptide 1; gonadoliberin; gonadotropin-releasing hormone 1 (luteinizing-releasing hormone); leuteinizing-releasing hormone; luliberin I; progonadoliberin-1 isoform 2 preproprotein; progonadoliberin-1; prolactin release-inhibiting factor", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 12 with or without anosmia (Disease Ontology:DOID:0090072); prostatic hypertrophy (Disease Ontology:DOID:11132); breast cancer (Disease Ontology:DOID:1612); periodontitis (Disease Ontology:DOID:824)", "pathway": " (hsa:2796); (R-HSA-375281); (R-HSA-416476)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10191087;10336644;10391209;10567430;10727532;10861009;11015615;11707068;11726197;11742120;11753430;12039074;12045258;12120503;1333190;15951850;16182515;16268778;16339447;16754659;16923326;1709010;17095587;18434541;18515384;18577758;18936096;19006286;1905813;1922095;19535795;21657270;2244890;23643382;2558651;25811175;26190377;26398856;2671939;26774084;2841328;2867548;29557506;2983326;3086311;36446322;37261390;38194289;39010903;6090951;6760865;7649152;7683654;7937899;8188646;8664309;8702611;9300077;9305846;9419371;9770463", "class_list": "", "function": "History of Puberty: Normal and Precocious. Review article, [RefSeq, PubMed]; New Horizons: Gonadotropin-Releasing Hormone and Cognition. Review article, [RefSeq, PubMed]; Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones., [UniProtKB]; This gene encodes a preproprotein that is proteolytically processed to generate a peptide that is a member of the gonadotropin-releasing hormone (GnRH) family of peptides. Alternative splicing results in multiple transcript variants, at least one of which is secreted and then cleaved to generate gonadoliberin-1 and GnRH-associated peptide 1. Gonadoliberin-1 stimulates the release of luteinizing and follicle stimulating hormones, which are important for reproduction. Mutations in this gene are associated with hypogonadotropic hypogonadism. [provided by RefSeq, Nov 2015]., [RefSeq]; Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH. 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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AVP0", "ec_number_list": [], "go_molecular_function": "GO:0005183 gonadotropin hormone-releasing hormone activity;GO:0005179 hormone activity;GO:0031530 gonadotropin-releasing hormone receptor binding", "go_cellular_component": "GO:1990008 neurosecretory vesicle;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005798 Golgi-associated vesicle;GO:0030425 dendrite", "go_biological_process": "GO:1990637 response to prolactin;GO:0033087 negative regulation of immature T cell proliferation;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0032496 response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "P01148-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19086-1", "uniprot_id": [ { "id": "GNAZ_HUMAN", "url": "https://www.uniprot.org/uniprot/P19086", "type": "external" } ], "mass": 40924.0, "length": 355, "protein_name": "Guanine nucleotide-binding protein G(z) subunit alpha", "gene_name": "GNAZ", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(z) subunit alpha", "refseq_ac": [ { "id": "NP_002064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002064", "type": "external" } ], "gene_names_uniprotkb": "GNAZ", "gene_names_refseq": "GNAZ; HG1H; gz-alpha", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(z) subunit alpha; G(x) alpha chain; Gz-alpha", "protein_names_refseq": "g(x) alpha chain; guanine nucleotide binding protein (G protein), alpha z polypeptide; guanine nucleotide-binding protein G(z) subunit alpha; heterotrimeric guanine nucleotide-binding protein 1H; transducin alpha", "tax_id": 9606, "disease": "McCune Albright syndrome (Disease Ontology:DOID:1858)", "pathway": " (hsa:2781); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-9634597); (R-HSA-9660821)", "pathway_count": 6, "publication_count": 124, "publication_id_list": "10496952;10714768;10954748;11007482;11043579;11313909;11773440;12036966;12058044;12106601;12120503;12180353;12860470;1325798;1347957;13549488;14671004;14675202;1517224;15245432;15539556;15705806;15765929;15769620;15951850;16313925;16634148;16645038;16687412;16923326;17168849;17379646;18044684;18434541;18566127;18577758;1908722;19105585;19342448;1939224;19741198;19876791;19929708;19931550;20381629;20424519;21036126;2115889;2163110;21844907;22495674;2417744;24273487;24530924;24687066;2491850;24962572;2534964;2553411;2553705;26190834;26417854;26987903;26992070;27392633;2748346;2834384;28450397;28502923;28595943;2871555;28891236;29443750;29557506;29602314;30627818;30779550;30833991;31154438;31217245;3127824;31279028;3129724;31399091;31983287;32157095;32226383;32387766;32497535;32502341;32540603;32618402;32715661;32938616;33049737;33091337;33968037;34509645;34530087;34932366;35051231;35580925;36010968;6085243;7559455;7568118;7595566;7651538;7937899;8007951;8015379;8340388;8406495;8429024;8514797;8522976;8527267;8598224;8672451;8702633;9166747;9263355;9417641;9651336", "class_list": "", "function": "GNAZ mutations are associated with melanoma., [RefSeq, PubMed]; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems., [UniProtKB]; Low GNAZ expression is associated with 22q11.2 deletion syndrome., [RefSeq, PubMed]; Overexpressed GNAZ predicts poor outcome and promotes G0/G1 cell cycle progression in hepatocellular carcinoma. Erratum:[Gene. 2022 Feb 5;810:146062. doi: 10.1016/j.gene.2021.146062. PMID: 34799182], [RefSeq, PubMed]; The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2R6C1;Q4QRJ6", "ec_number_list": [], "go_molecular_function": "GO:0031821 G protein-coupled serotonin receptor binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0030425 dendrite", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway;GO:0046676 negative regulation of insulin secretion", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "P19086-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36959-1", "uniprot_id": [ { "id": "GMPR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P36959", "type": "external" } ], "mass": 37419.0, "length": 345, "protein_name": "GMP reductase 1", "gene_name": "GMPR", "organism": "Human", "refseq_name": "GMP reductase 1", "refseq_ac": [ { "id": "NP_006868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006868", "type": "external" } ], "gene_names_uniprotkb": "GMPR; GMPR1", "gene_names_refseq": "GMPR 1; GMPR1; GMPR; hGMPR-I", "protein_names_uniprotkb": "GMP reductase 1; 1.7.1.7; GMPR 1; Guanosine 5'-monophosphate oxidoreductase 1; Guanosine monophosphate reductase 1", "protein_names_refseq": "GMP reductase 1; guanine monophosphate reductase; guanosine 5'-monophosphate oxidoreductase 1; guanosine monophosphate reductase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2766); (R-HSA-74217); (R-HSA-9854909)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10375532;10559916;11427893;12009299;1429593;16359702;1661705;1694726;1757097;18399692;2104852;21755941;218932;227870;24139804;24714562;2539852;25576301;2570640;26154972;26375851;2758468;27600516;27862975;2844225;2845866;28832583;29242379;29508533;29557506;29786170;2999129;3029074;30429286;30779550;30833945;31154438;3182793;31844290;32144205;32157095;32357974;32488085;32502341;32938616;32983136;33392160;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34368983;34932366;35051231;35148834;35318648;35580925;36010968;36241641;36284347;457664;6281270;6300847;6771276;8692979;9804782;9843365;9857047", "class_list": "", "function": "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]; GMPR as a suppressor of melanoma invasion is downregulated at the early invasive stages of melanoma progression and whose activity inhibits melanoma cell invasion by depleting intracellular GTP pools., [RefSeq, PubMed]; New biochemical insights into the dynamics of water molecules at the GMP or IMP binding site of human GMPR enzyme: A molecular dynamics study., [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[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": 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": "Q96HQ6", "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_cellular_component": "GO:0005829 cytosol;GO:1902560 GMP reductase complex", "go_biological_process": "GO:0009409 response to cold;GO:0006144 purine nucleobase metabolic process;GO:0006163 purine nucleotide metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "P36959-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P38405-1", "uniprot_id": [ { "id": "GNAL_HUMAN", "url": "https://www.uniprot.org/uniprot/P38405", "type": "external" } ], "mass": 44308.0, "length": 381, "protein_name": "Guanine nucleotide-binding protein G(olf) subunit alpha", "gene_name": "GNAL", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(olf) subunit alpha isoform 2", "refseq_ac": [ { "id": "NP_001135811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135811", "type": "external" } ], "gene_names_uniprotkb": "GNAL", "gene_names_refseq": "DYT25; GNAL; HG1O", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(olf) subunit alpha; 3.6.5.-; Adenylate cyclase-stimulating G alpha protein, olfactory type", "protein_names_refseq": "adenylate cyclase-stimulating G alpha protein, olfactory type; guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type; guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide, olfactory type; guanine nucleotide-binding protein G(olf) subunit alpha isoform 2; guanine nucleotide-binding protein G(olf) subunit alpha; heterotrimeric guanine nucleotide-binding protein 1O", "tax_id": 9606, "disease": "traumatic brain injury (Disease Ontology:DOID:0081292); dystonia 25 (Disease Ontology:DOID:0090055); McCune Albright syndrome (Disease Ontology:DOID:1858); dystonia (Disease Ontology:DOID:543)", "pathway": " (hsa:2774); (R-HSA-170660); (R-HSA-170670); (R-HSA-381753)", "pathway_count": 4, "publication_count": 43, "publication_id_list": "10460249;11237011;11832410;12058044;15598656;1658606;17230639;17601748;17873857;17973576;19474308;19581598;23222958;23994616;24316890;25645385;25784876;25977809;26154972;26373539;26725140;26810727;26811146;27093447;27916747;27916748;28656349;29235485;29242379;30536916;31040214;31844290;32387766;33592498;33912179;36931277;37225986;7937899;8119955;8243272;8327893;8663304;9865521", "class_list": "", "function": "Cases extend and support prior limited literature that suggested that cervical dystonia from GNAL mutations may significantly improve with GPi deep brain stimulation, [RefSeq, PubMed]; GNAL mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia., [RefSeq, PubMed]; GNAL mutations are not a common cause of dystonia in the Brazilian population, [RefSeq, PubMed]; Guanine nucleotide-binding protein (G protein) involved as transducer in olfactory signal transduction controlled by G protein-coupled receptors (GPCRs) (By similarity). Contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (By similarity). Signaling by an activated GPCR promotes GDP release and GTP binding (By similarity). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal (By similarity). Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (By similarity). GNAL/G(olf) alpha specifically mediates olfactory signal transduction within the olfactory neuroepithelium and the basal ganglia following GPCRs activation (By similarity). Acts by promoting the specific activation of adenylyl cyclase ADCY3, resulting in increased levels of the signaling molecule cAMP (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]., [RefSeq]; We report a novel GNAL mutation in Italian family with adult-onset, dominantly-inherited dystonia, [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": 11, "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": "B7ZA26;Q86XU3", "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": "4.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.1", "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": "2.7.7.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.85", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0001664 G protein-coupled receptor binding;GO:0031683 G-protein beta/gamma-subunit complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005834 heterotrimeric G-protein complex", "go_biological_process": "GO:0007165 signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway;GO:0007608 sensory perception of smell;GO:0007606 sensory perception of chemical stimulus", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P38405-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42261-1", "uniprot_id": [ { "id": "GRIA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P42261", "type": "external" } ], "mass": 101506.0, "length": 906, "protein_name": "Glutamate receptor 1", "gene_name": "GRIA1", "organism": "Human", "refseq_name": "glutamate receptor 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000818", "type": "external" } ], "gene_names_uniprotkb": "GRIA1; GLUA1; GLUH1; GLUR1", "gene_names_refseq": "GLUH1; GLUR1; GLURA; GRIA1; GluA1; HBGR1; MRD67; MRT76", "protein_names_uniprotkb": "Glutamate receptor 1; AMPA-selective glutamate receptor 1; GluR-1; GluR-A; GluR-K1; Glutamate receptor ionotropic, AMPA 1", "protein_names_refseq": "AMPA 1; AMPA receptor subunit GluA1; AMPA-selective glutamate receptor 1; gluR-1; gluR-A; gluR-K1; glutamate receptor 1 isoform 1 precursor; glutamate receptor, ionotropic, AMPA 1", "tax_id": 9606, "disease": "withdrawal disorder (Disease Ontology:DOID:0060001); autosomal dominant intellectual developmental disorder 67 (Disease Ontology:DOID:0061040); autosomal recessive intellectual developmental disorder 76 (Disease Ontology:DOID:0081235); traumatic brain injury (Disease Ontology:DOID:0081292); neurodegenerative disease (Disease Ontology:DOID:1289); hepatic encephalopathy (Disease Ontology:DOID:13413); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); morphine dependence (Disease Ontology:DOID:2560); central nervous system disease (Disease Ontology:DOID:331); schizoaffective disorder (Disease Ontology:DOID:5418); amphetamine abuse (Disease Ontology:DOID:670); cocaine abuse (Disease Ontology:DOID:809); hyperhomocysteinemia (Disease Ontology:DOID:9279); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:2890); (R-HSA-204005); (R-HSA-399710); (R-HSA-399719); (R-HSA-416993); (R-HSA-438066); (R-HSA-5694530); (R-HSA-8849932); (R-HSA-9620244)", "pathway_count": 9, "publication_count": 130, "publication_id_list": "10445031;10559958;10559959;10652252;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11927603;12070132;12172541;12235121;12237308;12609872;12815021;1311100;1320959;14567697;15037235;16055064;16129679;16303754;16495444;16495487;1652753;16624868;16630835;16912714;17005010;17010120;17038314;17192411;17287728;17316621;17409242;17499046;17562788;17607000;17684057;18025080;18031684;18227064;18283111;18287528;18311135;18452278;18843296;19144831;19164740;19217372;19265014;19269366;19566487;19638414;19656848;19681166;20427317;20477988;20533886;20545907;20600927;20679433;20805473;20966969;21135237;21172611;21478858;21525241;21532587;21610080;21689688;21878990;22013193;22157747;22427672;22675024;23033978;23378591;23479643;23481700;23698585;23739980;23852824;23864707;24119662;24917561;25202031;25406594;25492864;25586378;25619252;25619253;26321637;26460013;28449373;28628100;28657654;29247190;29557506;30135643;30459171;31154438;31844290;33404979;34274350;34937502;35675825;36608782;7569905;7877986;8221884;8601796;8620540;8663406;8663994;9094723;9150144;9177194;9307973;9395526;9407043;9472029;9647643;9648857", "class_list": "", "function": "AMPAr GluA1 Phosphorylation at Serine 845 in Limbic System Is Associated with Cardiac Autonomic Tone., [RefSeq, PubMed]; GluA1-homomeric AMPA receptor in synaptic plasticity and neurological diseases. Review article, [RefSeq, PubMed]; Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome., [RefSeq, PubMed]; Ionotropic glutamate receptor that functions as a ligand-gated cation channel, gated by L-glutamate and glutamatergic agonists such as alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), quisqualic acid, and kainic acid (PubMed:1311100, PubMed:20805473, PubMed:21172611, PubMed:28628100, PubMed:35675825). L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse upon entry of monovalent and divalent cations such as sodium and calcium. The receptor then desensitizes rapidly and enters in a transient inactive state, characterized by the presence of bound agonist (By similarity). In the presence of CACNG2 or CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of L-glutamate (PubMed:21172611). Resensitization is blocked by CNIH2 through interaction with CACNG8 in the CACNG8-containing AMPA receptors complex (PubMed:21172611). Calcium (Ca(2+)) permeability depends on subunits composition and, heteromeric channels containing edited GRIA2 subunit are calcium-impermeable. Also permeable to other divalents cations such as strontium(2+) and magnesium(2+) and monovalent cations such as potassium(1+) and lithium(1+) (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; MicroRNA miR-18a-3p promotes osteoporosis and possibly contributes to spinal fracture by inhibiting the glutamate AMPA receptor subunit 1 gene (GRIA1)., [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]; Timely insertion of AMPA receptor in developing vestibular circuits is required for manifestation of righting reflexes and effective navigation., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 18, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B7Z2S0;B7Z2W8;B7Z3F6;B7Z9G9;D3DQI4;E7ESV8;Q2NKM6", "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:0022849 glutamate-gated calcium ion channel activity;GO:0031698 beta-2 adrenergic receptor binding;GO:0031681 G-protein beta-subunit binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0046685 response to arsenic-containing substance;GO:1990416 cellular response to brain-derived neurotrophic factor stimulus;GO:0071359 cellular response to dsRNA;GO:0090326 positive regulation of locomotion involved in locomotory behavior;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "P42261-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46093-1", "uniprot_id": [ { "id": "GPR4_HUMAN", "url": "https://www.uniprot.org/uniprot/P46093", "type": "external" } ], "mass": 40982.0, "length": 362, "protein_name": "G protein-coupled receptor 4", "gene_name": "GPR4", "organism": "Human", "refseq_name": "G-protein coupled receptor 4", "refseq_ac": [ { "id": "NP_005273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005273", "type": "external" } ], "gene_names_uniprotkb": "GPR4", "gene_names_refseq": "GPR4; GPR6C.l; hGPR4", "protein_names_uniprotkb": "G protein-coupled receptor 4; G protein-coupled receptor 6C.l; GPR6C.l; hGPR4", "protein_names_refseq": "G-prodeshotein coupled receptor 4; G-protein coupled receptor 19; G-protein coupled receptor 4; G-protein coupled receptor 6C.l", "tax_id": 9606, "disease": "", "pathway": " (hsa:2828); (R-HSA-373076); (R-HSA-416476)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "10191087;10567430;10727532;10861009;11015615;11535583;11742120;11753430;12120503;12522134;12524422;12805023;12955148;14617636;15141213;15280385;15326175;15929991;15951850;16182515;16268778;16339447;16540462;1656963;16754659;16754668;16844083;16923326;17139494;17339491;17462861;17876302;18434541;18515384;18577758;18588883;18936096;1905813;20211729;21796212;22110680;2263478;2841328;30429286;3086311;31848261;32058960;33091337;33478938;35051231;36215666;39753132;39799123;40211064;40215959;40215960;7498459;7498464;7568007;7689702;7775459;7832990;7937899;7946354;8595909;8664309;9305846;9770463", "class_list": "", "function": "Endogenous GPR4 in endothelial cells may be a potential G protein-coupled receptor by which LPC signals proinflammatory activities., [RefSeq, PubMed]; GPR4, a close relative of OGR1, also responds to pH changes, but elicits cyclic AMP formation, [RefSeq, PubMed]; Proton-sensing G protein-coupled receptor activated by extracellular pH, which is required to monitor pH changes and generate adaptive reactions (PubMed:12955148, PubMed:17462861, PubMed:33478938, PubMed:39753132, PubMed:39799123, PubMed:40211064, PubMed:40215959, PubMed:40215960). Activated by an optimal pH of 6.8-7.2 (PubMed:12955148, PubMed:17462861, PubMed:39753132). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase (PubMed:39753132, PubMed:40211064, PubMed:40215960). GPR4 is mainly coupled to G(s) G proteins and mediates activation of adenylate cyclase activity (PubMed:12955148, PubMed:17462861, PubMed:20211729, PubMed:22110680, PubMed:39753132, PubMed:40211064, PubMed:40215960). May also couple with G(i), G(q) and G(12)/G(13) G proteins (PubMed:12955148, PubMed:17462861, PubMed:20211729, PubMed:22110680). Acts as a key regulator of respiratory sensitivity to CO2/H(+) in brain retrotrapezoid nucleus neurons: acts by mediating detection of protons generated by the formation of carbonic acid in the blood, an important mechanism to impulse to breathe (By similarity). Also acts as a regulator of acid secretion in the kidney collecting duct by maintaining acid-base homeostasis in the kidney (By similarity). Acidosis-induced GPR4 activation increases paracellular gap formation and permeability of vascular endothelial cells, possibly through the G(12)/G(13)/Rho GTPase signaling pathway (PubMed:32058960)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 39, "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": "A8K3T3;B0M0K1;Q6NWM4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled 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:0030155 regulation of cell adhesion;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0043114 regulation of vascular permeability", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "P46093-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48637-1", "uniprot_id": [ { "id": "GSHB_HUMAN", "url": "https://www.uniprot.org/uniprot/P48637", "type": "external" } ], "mass": 52385.0, "length": 474, "protein_name": "Glutathione synthetase", "gene_name": "GSS", "organism": "Human", "refseq_name": "glutathione synthetase", "refseq_ac": [ { "id": "NP_000169", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000169", "type": "external" } ], "gene_names_uniprotkb": "GSS", "gene_names_refseq": "CNSHA6; GSHS; GSS; HEL-S-64p; HEL-S-88n", "protein_names_uniprotkb": "Glutathione synthetase; 6.3.2.3; GSH synthetase; GSH-S; Glutathione synthase", "protein_names_refseq": "GSH synthetase; GSH-S; glutathione synthase; glutathione synthetase", "tax_id": 9606, "disease": "glutathione synthetase deficiency (Disease Ontology:DOID:0080699); glutatione synthetase deficiency with 5-oxoprolinuria (Disease Ontology:DOID:0081034); congenital nonspherocytic hemolytic anemia 6 (Disease Ontology:DOID:0112252); Alzheimer's disease (Disease Ontology:DOID:10652); Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:2937); (R-HSA-174403); (R-HSA-5579006)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10369661;11237011;12473676;17924658;18357469;18515354;19109178;19463;19672693;20068231;20112406;21712391;22223895;23186163;23682772;24275569;24715725;25576301;25645385;2573352;25880248;25931127;26154972;26669244;26768311;27581854;27846572;27920218;28063628;28832583;28849249;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29632046;30779550;30833945;31154438;31844290;31881666;31937595;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32938616;33141586;33298915;33537174;33592498;33912179;33936100;33968037;33981976;34171305;34211107;34509645;35051231;35154160;35251023;35494241;35561310;35580925;36010968;36241641;7646467;7826375;8813074;8896573;9080;9215686;9516961;9675072", "class_list": "", "function": "Catalyzes the production of glutathione from gamma-glutamylcysteine and glycine in an ATP-dependent manner (PubMed:7646467, PubMed:9215686). Glutathione (gamma-glutamylcysteinylglycine, GSH) is the most abundant intracellular thiol in living aerobic cells and is required for numerous processes including the protection of cells against oxidative damage, amino acid transport, the detoxification of foreign compounds, the maintenance of protein sulfhydryl groups in a reduced state and acts as a cofactor for a number of enzymes (PubMed:10369661). Participates in ophthalmate biosynthesis in hepatocytes (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Data suggest that the potential of clusterin and glutathione synthetase (GSH-S) as platelet biomarkers for early detection of colorectal cancer (CRC) could improve existing screening modalities in clinical application., [RefSeq, PubMed]; Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]., [RefSeq]; Mutation in Glutathione Synthase gene is associated with chronic metabolic acidosis in glutathione synthetase deficiency., [RefSeq, PubMed]; Salivary IL-6, MMP-8 and GSS mRNA levels in combination with urine test analysis could be useful diagnostic tool for the very distributed disorder of pyelonephritis in childhood. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2R697;B6F210;E1P5P9;Q4TTD9", "ec_number_list": [ { "id": "6.3.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.3", "type": "external" } ], "go_molecular_function": "GO:0004363 glutathione synthase activity;GO:0043295 glutathione binding;GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0007399 nervous system development;GO:0006520 amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "P48637-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50150-1", "uniprot_id": [ { "id": "GBG4_HUMAN", "url": "https://www.uniprot.org/uniprot/P50150", "type": "external" } ], "mass": 8389.0, "length": 75, "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4", "gene_name": "GNG4", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4", "refseq_ac": [ { "id": "NP_001092191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092191", "type": "external" } ], "gene_names_uniprotkb": "GNG4; GNGT4", "gene_names_refseq": "GNG4; HG3C", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4", "protein_names_refseq": "guanine nucleotide binding protein (G protein), gamma 4; guanine nucleotide binding protein 4; guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4; heterotrimeric guanine nucleotide-binding protein 3C", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2786); (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": 466, "publication_id_list": 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"class_list": "", "function": "G-Protein Subunit Gamma 4 as a Potential Biomarker for Predicting the Response of Chemotherapy and Immunotherapy in Bladder Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; G-protein subunit gamma-4 expression has potential for detection, prediction and therapeutic targeting in liver metastasis of gastric cancer., [RefSeq, PubMed]; GNG4, as a potential predictor of prognosis, is correlated with immune infiltrates in colon adenocarcinoma., [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]; Identifying GNG4 might play an important role in colorectal cancer TMB., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "", "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:0030308 negative regulation of cell growth;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 46.7, "record_id": "P50150-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50151-1", "uniprot_id": [ { "id": "GBG10_HUMAN", "url": "https://www.uniprot.org/uniprot/P50151", "type": "external" } ], "mass": 7205.0, "length": 68, "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10", "gene_name": "GNG10", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10", "refseq_ac": [ { "id": "NP_001017998", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017998", "type": "external" } ], "gene_names_uniprotkb": "GNG10; GNGT10", "gene_names_refseq": "GNG10", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10", "protein_names_refseq": "guanine nucleotide binding protein (G protein), gamma 10; guanine nucleotide binding protein 10; guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2790); (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": 467, "publication_id_list": 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"class_list": "", "function": "GNG10 mutations are associated with melanoma., [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. Interacts with beta-1 and beta-2, but not with beta-3., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": "Q3B7K2;Q4VC27", "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: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": 46.8, "record_id": "P50151-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51654-1", "uniprot_id": [ { "id": "GPC3_HUMAN", "url": "https://www.uniprot.org/uniprot/P51654", "type": "external" } ], "mass": 65563.0, "length": 580, "protein_name": "Glypican-3", "gene_name": "GPC3", "organism": "Human", "refseq_name": "glypican-3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001158089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158089", "type": "external" } ], "gene_names_uniprotkb": "GPC3; OCI5", "gene_names_refseq": "DGSX; GPC3; GTR2-2; MXR7; OCI-5; SDYS; SGBS1; SGBS; SGB", "protein_names_uniprotkb": "Glypican-3; GTR2-2; Intestinal protein OCI-5; MXR7", "protein_names_refseq": "glypican proteoglycan 3; glypican-3 isoform 1 precursor; heparan sulphate proteoglycan; intestinal protein OCI-5; secreted glypican-3", "tax_id": 9606, "disease": "Simpson-Golabi-Behmel syndrome type 1 (Disease Ontology:DOID:0060248); atypical teratoid rhabdoid tumor (Disease Ontology:DOID:2129); nephroblastoma (Disease Ontology:DOID:2154); placental site trophoblastic tumor (Disease Ontology:DOID:3596); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684); hepatoblastoma (Disease Ontology:DOID:687)", "pathway": " (hsa:2719); (R-HSA-1971475); (R-HSA-2022928); (R-HSA-2024096); (R-HSA-3560783); (R-HSA-3560801); (R-HSA-3656237); (R-HSA-3656253); (R-HSA-381426); (R-HSA-4420332); (R-HSA-8957275); (R-HSA-9694614); (R-HSA-975634); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9820960); (R-HSA-9833110); (R-HSA-9918481); (R-HSA-9918485)", "pathway_count": 19, "publication_count": 380, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10026136;10026158;10052934;10077652;10218588;10318803;10446189;10466419;10473568;10480354;10506123;10512690;10614670;10639137;10644753;10677367;10681634;10716625;10769148;10810289;10814714;10842173;10898936;10912521;10951195;10990447;11027606;11035113;11060341;11087757;11099377;11158056;11169766;11181758;11237011;11238108;11250653;11264294;11274177;11274389;11279150;11316783;11337487;11390981;11391482;11477410;11522292;11551958;11606061;11607032;11739083;11747608;11751371;11788658;11833835;11877387;12052963;12085187;12138164;12213822;12241545;12379487;12441129;12466191;12492399;12522689;12682107;1279089;12810533;12851874;12904166;12907439;12927802;1370451;1383255;14519844;14610063;14762106;14976261;14982929;14993226;15010527;15059894;15082721;15084397;15098107;15126567;15140961;15163706;15211654;15294915;15308688;15358783;1542003;15461586;15469690;15474033;15485880;15507651;15525596;15583000;15607426;15642270;15647514;15838506;16024626;16151907;16161994;1618828;16200213;16227623;16343444;16408927;16534867;16619025;16939223;16960811;16962401;17033958;17047378;17194707;17249697;17312271;17506785;17525477;17549790;17598008;17635713;17644776;17850639;17985932;18087047;18203194;18266465;18295589;18420935;18460466;18507396;1856611;1874730;19014918;1902833;19139408;19215053;19297154;1930190;19344451;1946389;19473117;2040636;20410276;20427285;20554947;20560209;20560210;20576607;20650889;20691685;21068237;21106934;2122463;21325420;21700882;21763480;21851338;21911577;21932952;22090124;22144186;2248955;22496216;22618708;22652793;2271516;22786881;22810237;22816037;23006890;23084921;23105391;23584533;23621622;23656592;23658209;23664117;23664118;23683607;2384594;24074594;24106281;24227843;24425863;24443026;24496449;24554904;2476804;2479552;2538457;25521717;25653284;25713144;25854864;25855704;26056282;26091039;26092250;26212330;26311884;26468529;26942076;26953343;2704749;27108190;271951;27277342;27550352;27832191;2793848;27999758;28132690;28148688;29123959;29203107;29296538;29345911;29419409;29427996;29437578;29557506;29610346;29742433;29786170;29902443;30418433;30449714;30471091;3052293;30599162;30827508;30918026;31003762;31262782;31439947;31497249;31720911;32125455;32142651;32157095;32179150;32219501;32337544;32362314;32387766;32488085;32512386;32532959;32653452;32703818;3275472;32970989;32983136;32995803;33082293;33082294;33159882;33177556;33298900;33493182;33493263;33494095;33554856;33774649;34023935;34159616;34171305;34179075;34235261;34235568;34270940;34324210;34431042;34509645;34510494;34542788;34561887;34611326;34724090;34732583;34782609;34929169;35051231;35215846;3527261;35343766;35676258;36102648;36211805;36411612;36951953;37074911;3714052;3744129;37726033;37925034;37938771;37965271;3863104;38947322;39139131;3942763;4345202;5057882;5675424;6323392;6420172;6496574;6961410;6980899;7493035;7499257;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7550340;7588299;7601448;7683646;7683668;7689487;7711731;8017323;8144529;8384721;8578528;8589713;8598903;8639673;8639781;8728311;8776591;8781553;8782816;8817670;8894645;8894688;8964575;8981950;9021160;9133586;9218519;9285796;9326317;9339360;9346953;9459334;9463333;9469622;9497324;9506957;9535912;9620772;9709957;9733769;9786878;9888420;9892646;9915799;9920938;9922210;9925661;9931503;9950367;9988767", "class_list": "glycogene", "function": "Both the glycosylated and unglycosylated forms of GPC3 interact with CD26 peptidase, resulting in inhibition of the enzyme., [RefSeq, PubMed]; Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]., [RefSeq]; Cell surface proteoglycan (PubMed:14610063). Negatively regulates the hedgehog signaling pathway when attached via the GPI-anchor to the cell surface by competing with the hedgehog receptor PTC1 for binding to hedgehog proteins (By similarity). Binding to the hedgehog protein SHH triggers internalization of the complex by endocytosis and its subsequent lysosomal degradation (By similarity). Positively regulates the canonical Wnt signaling pathway by binding to the Wnt receptor Frizzled and stimulating the binding of the Frizzled receptor to Wnt ligands (PubMed:16227623, PubMed:24496449). Positively regulates the non-canonical Wnt signaling pathway (By similarity). Binds to CD81 which decreases the availability of free CD81 for binding to the transcriptional repressor HHEX, resulting in nuclear translocation of HHEX and transcriptional repression (By similarity). Inhibits the dipeptidyl peptidase activity of DPP4 (PubMed:17549790). Plays a role in limb patterning and skeletal development by controlling the cellular response to BMP4 (By similarity). Modulates the effects of growth factors BMP2, BMP7 and FGF7 on renal branching morphogenesis (By similarity). Required for coronary vascular development (By similarity). Plays a role in regulating cell movements during gastrulation (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB]; Cell surface proteoglycan., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Expression of Concern: Glypican-3 promotes cell proliferation and tumorigenesis through up-regulation of b-catenin expression in lung squamous cell carcinoma., [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": 3, "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": 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": 3, "reported_phosphosites": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 804, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 12, "disease_count": 7, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "C9JLE3;G3V1R0;Q2L880;Q2L882", "ec_number_list": [], "go_molecular_function": "GO:0060422 peptidyl-dipeptidase inhibitor activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0072180 mesonephric duct morphogenesis;GO:0072111 cell proliferation involved in kidney development;GO:0016477 cell migration;GO:0042074 cell migration involved in gastrulation;GO:0045732 positive regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 39.9, "record_id": "P51654-1", "record_type": "protein", "filter_code": "1000000.1100111.100000.000000000001000000.1100000001001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03113-1", "uniprot_id": [ { "id": "GNA12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03113", "type": "external" } ], "mass": 44279.0, "length": 381, "protein_name": "Guanine nucleotide-binding protein subunit alpha-12", "gene_name": "GNA12", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein subunit alpha-12 isoform 3", "refseq_ac": [ { "id": "NP_001269370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269370", "type": "external" } ], "gene_names_uniprotkb": "GNA12", "gene_names_refseq": "GNA12; HG1M1; NNX3; RMP; gep", "protein_names_uniprotkb": "Guanine nucleotide-binding protein subunit alpha-12; G alpha-12; G protein subunit alpha-12", "protein_names_refseq": "WUGSC:H_GS165O14.2; g alpha-12; guanine nucleotide binding protein (G protein) alpha 12; guanine nucleotide-binding protein subunit alpha-12 isoform 3; guanine nucleotide-binding protein subunit alpha-12; heterotrimeric guanine nucleotide-binding protein 1M1", "tax_id": 9606, "disease": "McCune Albright syndrome (Disease Ontology:DOID:1858)", "pathway": " (hsa:2768); (R-HSA-416482); (R-HSA-456926)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10026210;11094164;11237011;11283606;11294240;11313914;11742120;11976333;12101119;12123608;12433842;12515866;15240885;15525651;15699075;15749160;15951850;15980433;16102047;16202387;16212495;16580177;16705036;1672265;16787920;16923326;17565996;18374420;18577758;18703424;19212140;19715408;20670195;22609986;22645359;22661716;23481700;23762476;25414122;25880248;26154972;26992070;27072905;27084452;27452731;27846572;27920218;28228285;28832583;29557506;29786170;30007591;31154438;31530632;31844290;32157095;32330601;32357974;32387766;32639031;32778842;32938616;32983136;33123756;33298915;33386590;33592498;33633747;33968037;33981976;34171305;34357683;34509645;35020952;35051231;35494241;35580925;38104152;7937899;8290554;8423800;8617235;8816443;8982657;9087410;9308960;9618465;9796816;9924018", "class_list": "", "function": "Divergent C-terminal motifs in Galpha12 and Galpha13 provide distinct mechanisms of effector binding and SRF activation., [RefSeq, PubMed]; ERalpha inhibits mesenchymal and amoeboidal movement of liver cancer cell via Galpha12., [RefSeq, PubMed]; G12/13 is activated by acute tethered agonist exposure in the adhesion GPCR ADGRL3. Erratum:[Nat Chem Biol. 2020 Dec;16(12):1440. doi: 10.1038/s41589-020-0649-z. PMID: 32807971], [RefSeq, PubMed]; Galpha12 signaling regulates transcriptional and phenotypic responses that promote glioblastoma tumor invasion. Publication Status: Online-Only, [RefSeq, PubMed]; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:12515866, PubMed:15240885, PubMed:15525651, PubMed:16705036, PubMed:16787920, PubMed:17565996, PubMed:22609986, PubMed:23762476, PubMed:27084452). Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF12/LARG) (PubMed:12515866, PubMed:15240885, PubMed:16202387). GNA12-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). GNA12-dependent Rho signaling also regulates protein phosphatese 2A activation causing dephosphorylation of its target proteins (PubMed:15525651, PubMed:17565996). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway and up-regulating pro-inflammatory cytokine production (PubMed:16705036, PubMed:16787920, PubMed:23762476, PubMed:27084452). Inhibits CDH1-mediated cell adhesion in process independent from Rho activation (PubMed:11976333, PubMed:16787920). Together with NAPA promotes CDH5 localization to plasma membrane (PubMed:15980433). May play a role in the control of cell migration through the TOR signaling cascade (PubMed:22609986)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Plant miR171 modulates mTOR pathway in HEK293 cells by targeting GNA12., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D204;B3KXS2;B7Z3F7;Q2T9L1;Q5PPR5;Q86UM8;Q8TD71;Q9UDU9", "ec_number_list": [], "go_molecular_function": "GO:0031752 D5 dopamine receptor binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0031683 G-protein beta/gamma-subunit complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0043025 neuronal cell body", "go_biological_process": "GO:0010762 regulation of fibroblast migration;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007596 blood coagulation;GO:0008217 regulation of blood pressure;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q03113-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12967-1", "uniprot_id": [ { "id": "GNDS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12967", "type": "external" } ], "mass": 100607.0, "length": 914, "protein_name": "Ral guanine nucleotide dissociation stimulator", "gene_name": "RALGDS", "organism": "Human", "refseq_name": "ral guanine nucleotide dissociation stimulator isoform 2", "refseq_ac": [ { "id": "NP_001035827", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035827", "type": "external" } ], "gene_names_uniprotkb": "RALGDS; KIAA1308; RGF", "gene_names_refseq": "RALGDS; RGDS; RGF; RalGEF", "protein_names_uniprotkb": "Ral guanine nucleotide dissociation stimulator; Ral guanine nucleotide exchange factor; RalGDS; RalGEF", "protein_names_refseq": "ral guanine nucleotide dissociation stimulator isoform 2; ral guanine nucleotide exchange factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:5900); (R-HSA-171007); (R-HSA-5673001)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10508167;10869344;11027663;11090077;11136978;11237011;11313946;11546808;11702783;12032311;12094235;12121613;14506247;14707138;15356145;1545823;15546878;16408927;16627759;16684964;16959974;1716764;17924679;17998941;18775330;1898771;19279408;19920141;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;24897931;24937142;25219551;25781681;26085527;27438768;28514659;28778966;29393594;29557506;30379171;31135801;31844290;31848261;32157095;32357974;32502341;32938616;33091337;33298915;33912179;35051231;35580925;35705054;36010968;6148751;7809086;7935463;7972015;8052307;8394845;8493579;8665852;8710374;8846784;8939933;9302994;9365783;9604935;9927426", "class_list": "", "function": "Functions as a guanine nucleotide exchange factor (GEF) activating either RalA or RalB GTPases and plays an important role in intracellular transport. Interacts and acts as an effector molecule for R-Ras, H-Ras, K-Ras, and Rap (By similarity). During bacterial clearance, recognizes 'Lys-33'-linked polyubiquitinated TRAF3 and subsequently mediates assembly of the exocyst complex (PubMed:27438768)., [UniProtKB, UniProtKB, PubMed]; Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7Z753;E7ER93;E7ERZ0;Q5T7V4;Q6KH11;Q6PCE1;Q6ZSD5;Q9HAX7;Q9HAY1;Q9HCT1;Q9P2N8", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0030695 GTPase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005903 brush border", "go_biological_process": "GO:0007265 Ras protein signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q12967-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13002-1", "uniprot_id": [ { "id": "GRIK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13002", "type": "external" } ], "mass": 102583.0, "length": 908, "protein_name": "Glutamate receptor ionotropic, kainate 2", "gene_name": "GRIK2", "organism": "Human", "refseq_name": "glutamate receptor ionotropic, kainate 2 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001159719", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159719", "type": "external" } ], "gene_names_uniprotkb": "GRIK2; GLUR6", "gene_names_refseq": "EAA4; GLR6; GLUK6; GLUR6; GRIK2; GluK2; MRT6; NEDLAS", "protein_names_uniprotkb": "Glutamate receptor ionotropic, kainate 2; EAA4; Excitatory amino acid receptor 4; GluK2; GluR-6; GluR6; Glutamate receptor 6", "protein_names_refseq": "GluK2(alt_5'UTR); bA487F5.1; excitatory amino acid receptor 4; gluR-6; glutamate receptor 6; glutamate receptor form A; glutamate receptor form B; glutamate receptor form C; glutamate receptor form D; glutamate receptor form E; glutamate receptor ionotropic, kainate 2 isoform 3 precursor; glutamate receptor ionotropic, kainate 2; putative NMDtranscript(cassette_171nt)", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 6 (Disease Ontology:DOID:0081182); Huntington's disease (Disease Ontology:DOID:12858); neurodegenerative disease (Disease Ontology:DOID:1289); depressive disorder (Disease Ontology:DOID:1596); neurodevelopmental disorder with impaired language and ataxia and with or without seizures (MONDO:MONDO:0859201)", "pathway": " (hsa:2898); (R-HSA-451307); (R-HSA-451308)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11675011;11744724;14511640;15745947;16221857;16408927;16959974;17847003;19342380;19920140;20230879;21893069;22808340;23481700;25645385;28180184;29557506;31474366;31844290;33592498;34375587;34405274;34730179;35051231;37990886;7523595;7536611;7696618;8034316;8094892;8163463;8730589;8782898;9625352", "class_list": "", "function": "Epigenetic signature discriminates lymphatic metastasis in BRAF wild-type thyroid carcinoma: methylation role of GRIK2., [RefSeq, PubMed]; 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 at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive cognitive disability. [provided by RefSeq, Jul 2008]., [RefSeq]; Independent of its ionotropic glutamate receptor activity, acts as a thermoreceptor conferring sensitivity to cold temperatures (PubMed:31474366). Functions in dorsal root ganglion neurons (By similarity)., [UniProtKB, UniProtKB, PubMed]; Ionotropic glutamate receptor that functions as a cation-permeable ligand-gated ion channel, gated by L-glutamate and the glutamatergic agonist kainic acid (PubMed:7536611, PubMed:8730589, PubMed:14511640). L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system (By similarity). Binding of the excitatory neurotransmitter L-glutamate induces a conformational change leading to the opening of the cation channel, converting the chemical signal to an electrical impulse (By similarity). The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist (PubMed:14511640, PubMed:28180184, PubMed:34375587, PubMed:7536611, PubMed:8730589). Modulates cell surface expression of NETO2 (By similarity). In association with GRIK3, involved in presynaptic facilitation of glutamate release at hippocampal mossy fiber synapses (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, 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]; The Deletion of GluK2 Alters Cholinergic Control of Neuronal Excitability., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "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": 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": 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": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 5, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A6NMY9;B5MCV0;D7RWZ3;D7RWZ4;D7RWZ5;D7RWZ6;D7RWZ7;Q8WWS1;Q96KS6;Q96KS7;Q96KS8", "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:0022849 glutamate-gated calcium ion channel activity;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0030165 PDZ domain binding;GO:0097110 scaffold protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0043195 terminal bouton;GO:0043204 perikaryon;GO:0032839 dendrite cytoplasm", "go_biological_process": "GO:0048172 regulation of short-term neuronal synaptic plasticity;GO:0051402 neuron apoptotic process;GO:0098815 modulation of excitatory postsynaptic potential;GO:0007268 chemical synaptic transmission;GO:0035249 synaptic transmission, glutamatergic", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q13002-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100010010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14449-1", "uniprot_id": [ { "id": "GRB14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14449", "type": "external" } ], "mass": 60988.0, "length": 540, "protein_name": "Growth factor receptor-bound protein 14", "gene_name": "GRB14", "organism": "Human", "refseq_name": "growth factor receptor-bound protein 14 isoform 2", "refseq_ac": [ { "id": "NP_001290351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290351", "type": "external" } ], "gene_names_uniprotkb": "GRB14", "gene_names_refseq": "GRB14", "protein_names_uniprotkb": "Growth factor receptor-bound protein 14; GRB14 adapter protein", "protein_names_refseq": "GRB14 adapter protein; growth factor receptor-bound protein 14 isoform 2", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2888); (R-HSA-210993)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10051567;10521483;11191051;11237011;11447223;11566266;11607834;11689432;11726652;11969368;14665640;14749497;15210700;15893672;16246733;16895971;19648926;20166139;20973951;21220648;21791607;24535599;28295264;30379171;31154438;31347216;32938616;33867829;33968037;34087483;35955692;7478529;8647858;8980223;9632797;9690470;9764820", "class_list": "", "function": "Adapter protein which modulates coupling of cell surface receptor kinases with specific signaling pathways. Binds to, and suppresses signals from, the activated insulin receptor (INSR). Potent inhibitor of insulin-stimulated MAPK3 phosphorylation. Plays a critical role regulating PDPK1 membrane translocation in response to insulin stimulation and serves as an adapter protein to recruit PDPK1 to activated insulin receptor, thus promoting PKB/AKT1 phosphorylation and transduction of the insulin signal., [UniProtKB, PubMed, PubMed]; Data suggest that GRB10 and GRB14 are both Ca2+-dependent CaM-binding proteins; more than one CaM-binding site and/or accessory CaM-binding sites appear to exist in GRB10 and GRB14, as compared to a single one present in GRB7. (GRB10 = growth factor receptor-bound protein 10; GRB14 = growth factor receptor-bound protein 14; CaM = calmodulin; GRB7 = growth factor receptor-bound protein 7), [RefSeq, PubMed]; Identification of low-dose radiation-induced exosomal circ-METRN and miR-4709-3p/GRB14/PDGFRalpha pathway as a key regulatory mechanism in Glioblastoma progression and radioresistance: Functional validation and clinical theranostic significance. Publication Status: Online-Only, [RefSeq, PubMed]; Metabolic Effects of the Waist-To-Hip Ratio Associated Locus GRB14/COBLL1 Are Related to GRB14 Expression in Adipose Tissue. Publication Status: Online-Only, [RefSeq, PubMed]; The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]; These findings suggested that phosphate groups on Ser(358) and Ser(362) in hGrb14 are dephosphorylated by PP1, and the dephosphorylation facilitates hGrb14-IR complex 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": 7, "reported_mutagensis": 7, "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": "B7Z7F9;Q7Z6I1", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0030674 protein-macromolecule adaptor activity;GO:0030971 receptor tyrosine kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0008286 insulin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q14449-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14789-1", "uniprot_id": [ { "id": "GOGB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14789", "type": "external" } ], "mass": 376019.0, "length": 3259, "protein_name": "Golgin subfamily B member 1", "gene_name": "GOLGB1", "organism": "Human", "refseq_name": "golgin subfamily B member 1 isoform 1", "refseq_ac": [ { "id": "NP_001243415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243415", "type": "external" } ], "gene_names_uniprotkb": "GOLGB1", "gene_names_refseq": "GCP372; GCP; GOLGB1; GOLIM1", "protein_names_uniprotkb": "Golgin subfamily B member 1; 372 kDa Golgi complex-associated protein; GCP372; Giantin; Macrogolgin", "protein_names_refseq": "372 kDa Golgi complex-associated protein; giantin; golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1; golgi integral membrane protein 1; golgin B1, golgi integral membrane protein; golgin subfamily B member 1 isoform 1; golgin subfamily B member 1", "tax_id": 9606, "disease": "hyperphosphatemic familial tumoral calcinosis (Disease Ontology:DOID:0111063); osteochondrodysplasia (Disease Ontology:DOID:2256); cleft palate (Disease Ontology:DOID:674)", "pathway": " (hsa:2804); (R-HSA-432722); (R-HSA-6807878); (R-HSA-9703465)", "pathway_count": 4, "publication_count": 236, "publication_id_list": "10052452;10318838;10394364;10445031;10469654;10559959;10679020;10761932;10903204;10921873;11027663;11035033;11172815;11237011;11285137;11306556;11461920;11590181;11604418;11689559;11694590;11703931;11726511;11748249;11994746;12047556;12070132;12388752;12468433;12634853;14654841;14742712;14980500;15003515;15037235;15102850;15498859;15616190;15632110;15728195;15813748;15878873;16030262;16155256;1631136;16633337;16723730;16761019;1680566;16912714;16926190;16940185;16959974;17116749;17253781;17268528;17274799;17360540;17429068;17451557;17760859;17764812;17927562;17956946;18086915;18182008;18192505;18283113;18487259;18524849;18669648;18809720;1898986;19015319;19109418;19164740;19296914;19345670;19413330;19438505;1957170;19631211;19651622;19690332;19758564;20068231;20357002;20427317;20637885;21072051;21219331;21262971;21689688;21697133;21705501;21740066;21844168;22013193;22094269;22304919;22438257;23103841;23168613;23186163;23481700;23839779;24119662;24275569;24366607;24806965;24854988;25418920;25436559;25492864;25576301;25645385;26308771;26375851;26664786;26716518;26768311;26853435;26992070;27600516;27666490;27795560;27846572;27920218;28028030;28063628;28228285;28411811;28514659;28649982;28751768;28782625;28832583;28834231;28904123;29025582;29242379;29331515;29393594;29430628;29493099;29507660;29508533;29557506;29632046;29632711;29786170;29880609;30315122;30370255;30429286;30453527;30559310;30779550;30833945;31066629;31154438;31217245;31359998;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34509645;34932366;35051231;35083852;35154160;35251023;35561310;35580925;36010968;36215666;36284347;37217939;37938771;7511208;7691276;7802676;8001155;8128252;8132710;8198703;8221884;8253837;8374173;8505331;8524399;8620540;8636227;8670264;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9918857;9990005", "class_list": "", "function": "Common polymorphisms of GOLGB1 are not associated with nonsyndromic cleft palate susceptibility in the Brazilian population, [RefSeq, PubMed]; Ethanol-induced Golgi disassembly was associated with de-dimerization of the largest Golgi matrix protein giantin, along with impaired transport of selected hepatic proteins. Publication Status: Online-Only, [RefSeq, PubMed]; In situ proximity ligation assays of Golgi localization of alpha-mannosidase IA at giantin versus GM130-GRASP65 site, and absence or presence of N-glycans terminated with alpha3-mannose on trans-Golgi glycosyltransferases may be useful for distinguishing indolent from aggressive prostate cancer cells., [RefSeq, PubMed]; May participate in forming intercisternal cross-bridges of the Golgi complex., [UniProtKB]; Single nucleotide polymorphisms (SNPs) rs1035798 in RAGE gene, rs2073617 and rs2073618 in TNFRSF11B, and rs3732410 in Golgb1 will be investigated on whether there is an association with hemorrhagic stroke (HS) in Chinese population. 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": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "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": "B2ZZ91;D3DN92;E7EP74;F1T0J2;Q14398", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane;GO:0005795 Golgi stack", "go_biological_process": "GO:1905793 protein localization to pericentriolar material;GO:0006355 regulation of DNA-templated transcription;GO:0007030 Golgi organization;GO:0035988 chondrocyte proliferation", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "Q14789-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16775-1", "uniprot_id": [ { "id": "GLO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16775", "type": "external" } ], "mass": 33806.0, "length": 308, "protein_name": "Hydroxyacylglutathione hydrolase, mitochondrial", "gene_name": "HAGH", "organism": "Human", "refseq_name": "hydroxyacylglutathione hydrolase, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001035517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035517", "type": "external" } ], "gene_names_uniprotkb": "HAGH; GLO2; HAGH1", "gene_names_refseq": "GLO2D; GLO2; GLX2; GLXII; HAGH1; HAGH", "protein_names_uniprotkb": "Hydroxyacylglutathione hydrolase, mitochondrial; 3.1.2.6; Glx II; Glyoxalase II", "protein_names_refseq": "glyoxalase II; hydroxyacylglutathione hydrolase, mitochondrial isoform 2; hydroxyacylglutathione hydrolase, mitochondrial; hydroxyacylglutathione hydroxylase", "tax_id": 9606, "disease": "", "pathway": " (hsa:3029)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "10508780;11237011;15117945;19608861;20068231;24366607;25576301;26992070;27600516;27846572;27920218;28904123;29242379;29314611;29493099;29557506;29632711;30429286;31154438;31530632;31844290;31848261;32157095;32350084;32357974;32427856;32488085;32897882;32938616;32983136;33298915;33592498;33725370;33936100;33968037;34019948;34087483;34357683;35051231;35251023;35580925;36010968;36215666;37938771;38665916;39456676;8550579", "class_list": "", "function": "CDH6 and HAGH protein levels in plasma associate with Alzheimer's disease in APOE epsilon4 carriers. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of Glyoxalase 2 in Human Breast Cancer Cells: Implications for Cell Proliferation and Doxorubicin Resistance. Publication Status: Online-Only, [RefSeq, PubMed]; Sirtuin 2 Regulates Protein LactoylLys Modifications., [RefSeq, PubMed]; The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]., [RefSeq]; Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid., [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K290;B4DP33;B4DRA7;E7EN93", "ec_number_list": [ { "id": "3.1.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.6", "type": "external" } ], "go_molecular_function": "GO:0004416 hydroxyacylglutathione hydrolase activity;GO:0046872 metal ion binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006750 glutathione biosynthetic process;GO:0019243 methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione;GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q16775-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T6J7-1", "uniprot_id": [ { "id": "GNTK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T6J7", "type": "external" } ], "mass": 20578.0, "length": 187, "protein_name": "Gluconokinase", "gene_name": "IDNK", "organism": "Human", "refseq_name": "probable gluconokinase isoform 1", "refseq_ac": [ { "id": "NP_001001551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001551", "type": "external" } ], "gene_names_uniprotkb": "IDNK; C9orf103", "gene_names_refseq": "C9orf103; IDNK; bA522I20.2; hGntK", "protein_names_uniprotkb": "Gluconokinase; 2.7.1.12; GNTK; Gluconate kinase", "protein_names_refseq": "glucokinase-like protein; gluconate kinase; gluconokinase-like protein; idnK, gluconokinase homolog; probable gluconokinase isoform 1; probable gluconokinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:414328)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;16015647;23067238;24896608;28228285;29242379;29351928;29557506;30315122;30429286;31844290;36241641;37217939", "class_list": "", "function": "Data show that C9orf103 encodes a functional gluconokinase., [RefSeq, PubMed]; Phosphorylates gluconate to 6-phosphogluconate., [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": 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": "A5PLN6;Q5T6J6", "ec_number_list": [ { "id": "2.7.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.12", "type": "external" } ], "go_molecular_function": "GO:0046316 gluconokinase activity;GO:0005524 ATP binding", "go_cellular_component": "", "go_biological_process": "GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q5T6J7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T848-1", "uniprot_id": [ { "id": "MGLYR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T848", "type": "external" } ], "mass": 135489.0, "length": 1215, "protein_name": "Metabotropic glycine receptor", "gene_name": "GPR158", "organism": "Human", "refseq_name": "metabotropic glycine receptor precursor", "refseq_ac": [ { "id": "NP_065803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065803", "type": "external" } ], "gene_names_uniprotkb": "GPR158; KIAA1136", "gene_names_refseq": "GPR158; mGlyR", "protein_names_uniprotkb": "Metabotropic glycine receptor; G protein-coupled receptor 158; mGlyR", "protein_names_refseq": "metabotropic glycine receptor precursor; metabotropic glycine receptor; probable G-protein coupled receptor 158", "tax_id": 9606, "disease": "", "pathway": " (hsa:57512)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;16385451;18649358;18655026;23451275;25645385;29557506;30855200;31154438;31189666;31533654;32157095;32265295;32488085;32983136;33912179;34793198;34815401;35051231;36996198;37074911", "class_list": "", "function": "Cryo-EM structure of human GPR158 receptor coupled to the RGS7-Gbeta5 signaling complex., [RefSeq, PubMed]; Data observed that GPR158 interacted with and stabilized the amount of RGS7-beta5 through a 50-residue region downstream of its transmembrane domain and upstream of the VCPWE motifs. Also, two VCPWE motifs are involved in alphao binding., [RefSeq, PubMed]; Elevated GPR158 expression patterns in mucinous ovarian carcinoma patients with unfavorable overall survival. Publication Status: Online-Only, [RefSeq, PubMed]; Metabotropic receptor for glycine that controls synapse formation and function in the brain (PubMed:36996198). Acts as an atypical G protein-coupled receptor that recruits and regulates the RGS7-GNB5 complex instead of activating G proteins (PubMed:31189666, PubMed:36996198). In absence of glycine ligand, promotes the GTPase activator activity of RGS7, increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:36996198). Glycine-binding changes the conformation of the intracellular surface, inhibiting the GTPase activator activity of the RGS7-GNB5 complex, promoting G protein alpha subunits into their active GTP-bound form and regulating cAMP levels (PubMed:36996198). Also able to bind taurine, a compound closely related to glycine, but with a two-fold lower affinity (PubMed:36996198). Glycine receptor-dependent regulation of cAMP controls key ion channels, kinases and neurotrophic factors involved in neuronal excitability and synaptic transmission (PubMed:36996198). Plays a pivotal role in regulating mood and cognition via its ability to regulate neuronal excitability in L2/L3 pyramidal neurons of the prefrontal cortex (By similarity). Also involved in spatial learning by regulating hippocampal CA1 neuronal excitability (By similarity). Acts as a synaptic organizer in the hippocampus, required for proper mossy fiber-CA3 neurocircuitry establishment, structure and function: induces presynaptic differentiation in contacting axons via its interaction with GPC4 (By similarity). In addition to glycine, may also act as a receptor for osteocalcin (BGLAP) hormone: osteocalcin-binding initiates a signaling response that prevents neuronal apoptosis in the hippocampus and regulates the synthesis of neurotransmitters (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Orphan receptor GPR158 serves as a metabotropic glycine receptor: mGlyR., [RefSeq, PubMed]; Structure of the class C orphan GPCR GPR158 in complex with RGS7-Gbeta5. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 6, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 91, "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": "Q6QR81;Q9ULT3", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0008047 enzyme activator activity;GO:0160079 G protein-coupled glycine receptor activity;GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0045211 postsynaptic membrane;GO:0042734 presynaptic membrane;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0050890 cognition;GO:0072659 protein localization to plasma membrane;GO:0007420 brain development;GO:0050807 regulation of synapse organization", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q5T848-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NV75-1", "uniprot_id": [ { "id": "GP153_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NV75", "type": "external" } ], "mass": 65361.0, "length": 609, "protein_name": "Probable G protein-coupled receptor 153", "gene_name": "GPR153", "organism": "Human", "refseq_name": "probable G-protein coupled receptor 153", "refseq_ac": [ { "id": "NP_997253", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997253", "type": "external" } ], "gene_names_uniprotkb": "GPR153; PGR1", "gene_names_refseq": "GPR153; PGR1", "protein_names_uniprotkb": "Probable G protein-coupled receptor 153; G protein-coupled receptor PGR1", "protein_names_refseq": "G-protein coupled receptor PGR1; probable G-protein coupled receptor 153", "tax_id": 9606, "disease": "", "pathway": " (hsa:387509)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "12679517;29557506;31848261;33968037;35051231;35494241", "class_list": "", "function": "Orphan receptor., [UniProtKB]; This gene encodes an integral membrane protein that belongs to the Class A rhodopsin superfamily of G protein coupled receptors. The encoded protein is expressed primarily in the central nervous system. A knockdown of the orthologous gene in rat is associated with a significant reduction in food intake and impaired decision making ability. Mutations in this gene are associated with schizophrenia, autism, and other neuropsychiatric disorders. The expression of this gene is activated by the glioma-associated oncogene homolog 1 transcription factor which, in turn, is activated by sonic hedgehog in normal and tumorigenic cells. [provided by RefSeq, Feb 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5TGR5;Q6AHW8;Q86SP8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6NV75-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P9A2-1", "uniprot_id": [ { "id": "GLT18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P9A2", "type": "external" } ], "mass": 69561.0, "length": 607, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 18", "gene_name": "GALNT18", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 18 isoform 1", "refseq_ac": [ { "id": "NP_940918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940918", "type": "external" } ], "gene_names_uniprotkb": "GALNT18; GALNTL4", "gene_names_refseq": "GALNACT18; GALNT15; GALNT18; GALNTL4; GalNAc-T15; GalNAc-T18", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 18; 2.4.1.41; GalNAc-T-like protein 4; GalNAc-T18; Polypeptide GalNAc transferase 18; Polypeptide GalNAc transferase-like protein 4; Polypeptide N-acetylgalactosaminyltransferase-like protein 4; Protein-UDP acetylgalactosaminyltransferase-like protein 4; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4; pp-GaNTase-like protein 4", "protein_names_refseq": "GalNAc-transferase 18; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4; galNAc-T-like protein 4; polypeptide GalNAc transferase 18; polypeptide GalNAc transferase-like protein 4; polypeptide N-acetylgalactosaminyltransferase 18 isoform 1; pp-GaNTase-like protein 4; protein-UDP acetylgalactosaminyltransferase-like protein 4; putative polypeptide N-acetylgalactosaminyltransferase-like protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:374378); (R-HSA-913709)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10.1101/2023.09.13.557529;10330415;10430883;10753916;11042166;11283017;11304796;11821425;12855678;1329093;15486459;15489334;15560372;15620693;17113861;18537974;19240061;20080650;22171061;22183981;22186971;22238593;22491018;23090970;23481700;24190977;24643043;24715725;25645385;26992070;27600516;27846572;27920218;28228285;28514659;29242379;29557506;30429286;30459171;30833945;31154438;31844290;32157095;32350084;32938616;32983136;33141586;33592498;33909026;33936100;33968037;33981976;34171305;34561969;34932366;35051231;35580925;36010968;36284347;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine (GalNAc) residue from UDP-GalNAc to a serine or threonine residue on the protein receptor., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Polypeptide N-acetylgalactosaminyltransferase 18 retains in endoplasmic reticulum depending on its luminal regions interacting with ER resident UGGT1, PLOD3 and LPCAT1., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 745, "reported_interactions": 0, "missing_score": 9606, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O95903;Q8NDY9", "ec_number_list": [ { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 7434, "hit_score": 7.3, "record_id": "Q6P9A2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6J2-1", "uniprot_id": [ { "id": "GRASP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6J2", "type": "external" } ], "mass": 42623.0, "length": 395, "protein_name": "Protein TAMALIN", "gene_name": "TAMALIN", "organism": "Human", "refseq_name": "protein TAMALIN isoform 2", "refseq_ac": [ { "id": "NP_001258785", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258785", "type": "external" } ], "gene_names_uniprotkb": "TAMALIN; GRASP", "gene_names_refseq": "GRASP; TAMALIN", "protein_names_uniprotkb": "Protein TAMALIN; GRP1-associated scaffold protein; General receptor for phosphoinositides 1-associated scaffold protein", "protein_names_refseq": "GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein; general receptor for phosphoinositides 1 associated scaffold protein; protein TAMALIN isoform 2; protein TAMALIN", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:160622)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;17396155;19690332;25645385;25892735;26048293;26992070;29557506;29632711;30429286;31154438;31844290;31848261;32157095;32376687;35051231", "class_list": "", "function": "Plays a role in intracellular trafficking and contributes to the macromolecular organization of group 1 metabotropic glutamate receptors (mGluRs) at synapses., [UniProtKB]; Schizophrenia subjects compared to controls showed a marked increase in CA1 hippocampal Norbin, and Tamalin proteins (47% and 34% respectively), which are endogenous regulators of mGluR5 signalling and trafficking, [RefSeq, PubMed]; The crystal structures of the autoinhibitory PDZ domain of Tamalin has implications for the regulation of metabotropic glutamate receptor trafficking., [RefSeq, PubMed]; The post-synaptic scaffolding protein tamalin regulates ligand-mediated trafficking of metabotropic glutamate receptors., [RefSeq, PubMed]; This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "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": "Q6PIF8;Q7Z741", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031267 small GTPase binding;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0045211 postsynaptic membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0099149 regulation of postsynaptic neurotransmitter receptor internalization", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q7Z6J2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SR1-1", "uniprot_id": [ { "id": "GLT10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SR1", "type": "external" } ], "mass": 68992.0, "length": 603, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 10", "gene_name": "GALNT10", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 10", "refseq_ac": [ { "id": "NP_938080", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_938080", "type": "external" } ], "gene_names_uniprotkb": "GALNT10", "gene_names_refseq": "GALNACT10; GALNT10; PPGALNACT10; PPGANTASE10", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 10; 2.4.1.41; GalNAc-T10; Polypeptide GalNAc transferase 10; Protein-UDP acetylgalactosaminyltransferase 10; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 10; pp-GaNTase 10", "protein_names_refseq": "GalNAc transferase 10; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 10; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10); polypeptide N-acetylgalactosaminyltransferase 10", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:55568); (R-HSA-913709)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10330415;10430883;10753916;11042166;11237011;11283017;11304796;11821425;12417297;12693554;12855678;1329093;14702039;15486459;15489334;15560372;15620693;16650853;17113861;17974005;18537974;18562306;19460755;20112406;21701570;22183981;23583978;23584533;24643043;25422324;25502872;25548287;25813380;25898001;27846572;28122358;28228285;28467828;28834231;29242379;29314611;29437277;29557506;29632046;30315122;30410026;30429286;30459171;30626607;31611695;31844290;31848261;31853576;31998317;32157095;32161166;32265295;32350084;32488085;32938616;32983136;33275228;33298915;33301605;33592498;33717175;33936100;33968037;34111434;34171305;34357683;35051231;35154160;35580925;36010968;36241641;36284347;37938771;38665916;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "BAG3 epigenetically regulates GALNT10 expression via WDR5 and facilitates the stem cell-like properties of platin-resistant ovarian cancer cells., [RefSeq, PubMed]; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward Muc5Ac and EA2 peptide substrates., [UniProtKB]; GALNT10 promotes the proliferation and metastatic ability of gastric cancer and reduces 5-fluorouracil sensitivity by activating HOXD13., [RefSeq, PubMed]; GalNAc T10 has a large and pronounced glycopeptide preference for Ser/Thr-O-GalNAc only at the +1 position from the acceptor site, whereas T1 and T2 have significantly reduced and variable preferences for Ser/Thr-O-GalNAc., [RefSeq, PubMed]; High GALNT10 expression confers with immunosuppressive microenvironment to promote tumor progression and predicts poor clinical outcomes in HGSC patients., [RefSeq, PubMed]; Identified that GALNT10 was an independent prognostic factor for overall survival, [RefSeq, PubMed]; Molecular cloning and characterization of pp-GalNAc-T10 as a UDP-GalNAc transferase., [RefSeq, PubMed]; Sequence recognition by the catalytic domain differs between hT2 and hT10 in that hT10 requires a pre-existing GalNAc residue while hT2 does not, [RefSeq, PubMed]; The long noncoding RNA DLGAP1-AS2 facilitates cholangiocarcinoma progression via miR-505 and GALNT10., [RefSeq, PubMed]; This gene encodes a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.[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": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 678, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B3KXC9;Q6IN56;Q86VP8;Q8IXJ2;Q8TEJ2;Q96IV2;Q9H8E1;Q9Y4M4", "ec_number_list": [ { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 7434, "hit_score": 10.3, "record_id": "Q86SR1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100010000000.110.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XS8-1", "uniprot_id": [ { "id": "GOLI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XS8", "type": "external" } ], "mass": 46405.0, "length": 419, "protein_name": "E3 ubiquitin-protein ligase RNF130", "gene_name": "RNF130", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF130 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001267730", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267730", "type": "external" } ], "gene_names_uniprotkb": "RNF130", "gene_names_refseq": "G1RP; G1RZFP; GOLIATH; GP; RNF130", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF130; 2.3.2.27; Goliath homolog; H-Goliath; RING finger protein 130; RING-type E3 ubiquitin transferase RNF130", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF130 isoform 2 precursor; E3 ubiquitin-protein ligase RNF130; RING-type E3 ubiquitin transferase RNF130; g1-related zinc finger protein; goliath homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:55819); (R-HSA-983168)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;10806348;11062501;11237011;11350924;12646216;13679316;14734113;15224091;15224092;15571818;16549277;16595681;16849449;16954532;18662542;19028597;19159218;19352404;19452197;19489725;19690332;19851334;19874575;19940261;22544926;2261476;25645385;26811146;28218747;29314611;29393594;29437277;29557506;29632046;29632711;30379171;30524438;31064412;31844290;32157095;32265295;32350084;32357974;32387766;32897882;32938616;32983136;33043033;33298915;33592498;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34509645;35051231;35251023;35580925;36010968;36215666;36241641;36893517;37074911;9380723;9668046", "class_list": "", "function": "Cloning and functional analysis of the mouse counterpart., [RefSeq, PubMed]; Cloning and functional analysis of the rat counterpart., [RefSeq, PubMed]; GOLIATH, a paralog of GRAIL, is a new E3 ligase protein, expressed in leukocytes., [RefSeq, PubMed]; In myeloma cell lines but not normal plasma cells, DNA methylation correlated inversely with the expression of both miR-340 and RNF130. RNF130/miR-340 methylation at diagnosis was associated with inferior overall survival. Publication Status: Online-Only, [RefSeq, PubMed]; May have a role during the programmed cell death of hematopoietic cells (By similarity). Acts as an E3 ubiquitin-protein ligase., [UniProtKB, PubMed]; RNF130 protects against pulmonary fibrosis through suppressing aerobic glycolysis by mediating c-myc ubiquitination., [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [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": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "J3KN31;Q32P32;Q59EL1;Q641P9;Q6P177;Q7L2U2;Q9P0J9", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006915 apoptotic process;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0012501 programmed cell death", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q86XS8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXK2-1", "uniprot_id": [ { "id": "GLT12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXK2", "type": "external" } ], "mass": 66938.0, "length": 581, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 12", "gene_name": "GALNT12", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 12", "refseq_ac": [ { "id": "NP_078918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078918", "type": "external" } ], "gene_names_uniprotkb": "GALNT12", "gene_names_refseq": "CRCS1; GALNT12; GalNAc-T12", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 12; 2.4.1.41; GalNAc-T12; Polypeptide GalNAc transferase 12; Protein-UDP acetylgalactosaminyltransferase 12; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12; pp-GaNTase 12", "protein_names_refseq": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12); colorectal cancer, susceptibility to 1; polypeptide GalNAc transferase 12; polypeptide N-acetylgalactosaminyltransferase 12; pp-GaNTase 12; protein-UDP acetylgalactosaminyltransferase 12", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256); colorectal cancer, susceptibility to, 1 (MONDO:MONDO:0012132)", "pathway": " (hsa:79695); (R-HSA-5083636); (R-HSA-913709)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10330415;10430883;10753916;11042166;11237011;11283017;11304796;11821425;12135769;12855678;1329093;14702039;15164053;15486459;15489334;15557789;15560372;15620693;17113861;18537974;19617566;22183981;22461326;23481700;23584533;24038392;24115450;24643043;25813380;29095867;29557506;29749045;29789417;31548401;31611695;31844290;32350084;32387766;32502341;32938616;33593824;33968037;34405274;34509645;35051231;35251023;35461073;35580925;40307207;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays enzymatic activity toward the Gal-NAc-Muc5AC glycopeptide, but no detectable activity to mono-GalNAc-glycosylated Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynthesis in digestive organs., [UniProtKB]; Cloning and characterization, [RefSeq, PubMed]; GALNT12 is associated with the malignancy of glioma and promotes glioblastoma multiforme in vitro by activating Akt signaling., [RefSeq, PubMed]; Inactivating GALNT12 mutations were identified as acquired somatic mutations in a set of 30 microsatellite stable colon tumors. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Inherited deleterious variants in GALNT12 are associated with CRC susceptibility., [RefSeq, PubMed]; Interaction between G ALNT12 and C1GALT1 Associates with Galactose-Deficient IgA1 and IgA Nephropathy., [RefSeq, PubMed]; LOH analyses, glycosylation pattern tests and case-control studies, our results did not support the role of c.907G>A, p.(D303N) as a high-penetrance risk allele for polyposis CRC Publication Status: Online-Only, [RefSeq, PubMed]; The expression of pp-GalNAc-T12 seems to be a negative marker especially of metastatic gastric and colorectal cancer, [RefSeq, PubMed]; The findings provide strong, independent evidence for the association of GALNT12 defects with CRC-susceptibility; underscoring implications for glycosylation pathway defects in CRC., [RefSeq, PubMed]; This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[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": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1318, "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": "Q5TCF7;Q8NG54;Q96CT9;Q9H771", "ec_number_list": [ { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 7434, "hit_score": 6.6, "record_id": "Q8IXK2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N428-1", "uniprot_id": [ { "id": "GLT16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N428", "type": "external" } ], "mass": 63074.0, "length": 558, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 16", "gene_name": "GALNT16", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 16", "refseq_ac": [ { "id": "NP_001161840", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161840", "type": "external" } ], "gene_names_uniprotkb": "GALNT16; GALNTL1; KIAA1130", "gene_names_refseq": "GALNACT16; GALNT16; GALNTL1; GalNAc-T16", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 16; 2.4.1.41; GalNAc-T-like protein 1; GalNAc-T16; Polypeptide GalNAc transferase 16; Polypeptide GalNAc transferase-like protein 1; Polypeptide N-acetylgalactosaminyltransferase-like protein 1; Protein-UDP acetylgalactosaminyltransferase-like protein 1; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 1; pp-GaNTase-like protein 1", "protein_names_refseq": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 1; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1; galNAc-T-like protein 1; polypeptide GalNAc transferase 16; polypeptide GalNAc transferase-like protein 1; polypeptide N-acetylgalactosaminyltransferase 16; pp-GaNTase-like protein 1; protein-UDP acetylgalactosaminyltransferase-like protein 1; putative polypeptide N-acetylgalactosaminyltransferase-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57452); (R-HSA-913709)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10.1038/emboj.2013.79;10330415;10430883;10574461;10753916;11042166;11283017;11304796;11821425;12855678;1329093;14702039;15486459;15489334;15560372;15620693;17113861;18537974;22183981;22186971;23584533;24643043;27600516;29557506;31286696;32357974;34171305;34405274;34452628;36010968;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor., [UniProtKB, PubMed]; Circ-GALNT16 restrains colorectal cancer progression by enhancing the SUMOylation of hnRNPK. Publication Status: Online-Only, [RefSeq, PubMed]; Rs2105269 and rs72625676 were associated with higher breast cancer (BC) risk in younger patients with age T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families., [RefSeq, PubMed]; Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium., [UniProtKB]; Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of 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": 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": 3, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q14422;Q8NG40", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007166 cell surface receptor signaling pathway;GO:0007597 blood coagulation, intrinsic pathway;GO:0030168 platelet activation;GO:0051209 release of sequestered calcium ion into cytosol", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "P13224-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13985-1", "uniprot_id": [ { "id": "HRES1_HUMAN", "url": "https://www.uniprot.org/uniprot/P13985", "type": "external" } ], "mass": 24343.0, "length": 223, "protein_name": "Putative HTLV-1-related endogenous sequence", "gene_name": "HRES1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "HRES1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative HTLV-1-related endogenous sequence; p25", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "1347429;26831522;2780312;29557506;7488288", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P13985-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17066-1", "uniprot_id": [ { "id": "HSP76_HUMAN", "url": "https://www.uniprot.org/uniprot/P17066", "type": "external" } ], "mass": 71028.0, "length": 643, "protein_name": "Heat shock 70 kDa protein 6", "gene_name": "HSPA6", "organism": "Human", "refseq_name": "heat shock 70 kDa protein 6", "refseq_ac": [ { "id": "NP_002146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002146", "type": "external" } ], "gene_names_uniprotkb": "HSPA6; HSP70B'", "gene_names_refseq": "HSP70B'; HSPA6", "protein_names_uniprotkb": "Heat shock 70 kDa protein 6; Heat shock 70 kDa protein B'; Heat shock protein family A member 6", "protein_names_refseq": "epididymis secretory sperm binding protein; heat shock 70 kDa protein 6; heat shock 70 kDa protein B'; heat shock 70kD protein 6 (HSP70B'); heat shock 70kDa protein 6 (HSP70B'); heat shock protein family A member 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:3310); (R-HSA-3371453); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "10.1101/2023.09.13.557529;10954706;11747420;12853476;12917326;12974469;1346391;15364926;15802566;1586970;16278218;1754405;18235501;18235502;18452278;18550409;19229036;19914676;20072699;22121020;22465953;22541429;22735644;22940245;2327978;23349863;23650620;23921388;24714562;25502872;25576301;26374642;26375851;26853435;26865365;26992070;27090790;28871256;29242379;29385708;29557506;30397120;30410026;30429286;30444036;30626607;31217245;31611695;3184191;31844290;31848261;32157095;32387766;32897882;32938616;32983136;33123756;33214551;33298915;33592498;33912179;33936100;33968037;34019948;34087483;34171305;34433824;34509645;34932366;35051231;35138101;35154160;35251023;35318648;35454081;35561310;35580925;35666422;36010968;36215666;36241641;36927457;37217939;37739270;37749917;38253038;7585962;8692836;8721986;8946918;9305631;9873016;9920933", "class_list": "", "function": "Alterations in Proteostasis System Components in Peripheral Blood Mononuclear Cells in Parkinson Disease: Focusing on the HSP70 and p62 Levels. Publication Status: Online-Only, [RefSeq, PubMed]; BARX1 promotes osteosarcoma cell proliferation and invasion by regulating HSPA6 expression. Publication Status: Online-Only, [RefSeq, PubMed]; HSPA6 and its role in cancers and other diseases. Review article, [RefSeq, PubMed]; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release (PubMed:26865365)., [UniProtKB, PubMed]; PP4R1 accelerates the malignant progression of NSCLC via up-regulating HSPA6 expression and HSPA6-mediated ER stress., [RefSeq, PubMed]; ROR2 deficit may induce the tetralogy of Fallot via down-regulating of beta-catenin/SOX3/HSPA6 in vitro and in vivo., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 1, "reported_glycation": 0, "reported_snv": 29, "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": "Q1HBA8;Q8IYK7;Q9BT95", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity;GO:0031072 heat shock protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0034605 cellular response to heat;GO:0042026 protein refolding;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "P17066-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32249-1", "uniprot_id": [ { "id": "GP183_HUMAN", "url": "https://www.uniprot.org/uniprot/P32249", "type": "external" } ], "mass": 41224.0, "length": 361, "protein_name": "G protein-coupled receptor 183", "gene_name": "GPR183", "organism": "Human", "refseq_name": "G-protein coupled receptor 183", "refseq_ac": [ { "id": "NP_004942", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004942", "type": "external" } ], "gene_names_uniprotkb": "GPR183; EBI2", "gene_names_refseq": "EBI2; GPR183; hEBI2", "protein_names_uniprotkb": "G protein-coupled receptor 183; EBI2; EBV-induced G protein-coupled receptor 2; Epstein-Barr virus-induced G protein-coupled receptor 2; hEBI2", "protein_names_refseq": "EBV-induced G-protein coupled receptor 2; Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor); G-protein coupled receptor 183; epstein-Barr virus-induced G-protein coupled receptor 2", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); Parkinson's disease (Disease Ontology:DOID:14330); breast adenocarcinoma (Disease Ontology:DOID:3458); neurofibrosarcoma (Disease Ontology:DOID:3512); esophageal cancer (Disease Ontology:DOID:5041)", "pathway": " (hsa:1880); (R-HSA-373076); (R-HSA-418594)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "11007482;12120503;12522134;12524422;12955148;14617636;15141213;15280385;15326175;15929991;15951850;16540462;1656963;16634148;16754668;16844083;16923326;17139494;17339491;17462861;17876302;18434541;18577758;18588883;18628402;18987736;21261596;21673108;21796212;2263478;22875855;22913878;22930711;23772388;24678947;25297897;2534964;25418920;25502872;26992070;2748346;27846572;28063628;2834384;28467828;28832583;28860189;28871256;29242379;29314611;29393594;29493099;29632046;29632711;31844290;32265295;32350084;33936100;34357683;35051231;35154160;35875859;37469011;38770825;38877985;7498464;7568007;7689702;7775459;7937899;7946354;8015379;8383238;8406495", "class_list": "", "function": "Abnormal lower expression of GPR183 in peripheral blood T and B cell subsets of systemic lupus erythematosus patients., [RefSeq, PubMed]; Based on the constitutive signaling and cellular expression pattern of EBI2, it is suggested that it may function in conjunction with BILF1 in the reprogramming of the cell during EBV infection, [RefSeq, PubMed]; Exploring the Activation Mechanism of the GPR183 Receptor., [RefSeq, PubMed]; G protein-coupled receptor expressed in lymphocytes that acts as a chemotactic receptor for B-cells, T-cells, splenic dendritic cells, monocytes/macrophages and astrocytes (By similarity). Receptor for oxysterol 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC) and other related oxysterols (PubMed:21796212, PubMed:22875855, PubMed:22930711). Mediates cell positioning and movement of a number of cells by binding the 7-alpha,25-OHC ligand that forms a chemotactic gradient (By similarity). Binding of 7-alpha,25-OHC mediates the correct localization of B-cells during humoral immune responses (By similarity). Guides B-cell movement along the B-cell zone-T-cell zone boundary and later to interfollicular and outer follicular regions (By similarity). Its specific expression during B-cell maturation helps position B-cells appropriately for mounting T-dependent antibody responses (By similarity). Collaborates with CXCR5 to mediate B-cell migration; probably by forming a heterodimer with CXCR5 that affects the interaction between of CXCL13 and CXCR5 (PubMed:22913878). Also acts as a chemotactic receptor for some T-cells upon binding to 7-alpha,25-OHC ligand (By similarity). Promotes follicular helper T (Tfh) cells differentiation by positioning activated T-cells at the follicle-T-zone interface, promoting contact of newly activated CD4 T-cells with activated dendritic cells and exposing them to Tfh-cell-promoting inducible costimulator (ICOS) ligand (By similarity). Expression in splenic dendritic cells is required for their homeostasis, localization and ability to induce B- and T-cell responses: GPR183 acts as a chemotactic receptor in dendritic cells that mediates the accumulation of CD4(+) dendritic cells in bridging channels (By similarity). Regulates migration of astrocytes and is involved in communication between astrocytes and macrophages (PubMed:25297897). Promotes osteoclast precursor migration to bone surfaces (By similarity). Signals constitutively through G(i)-alpha, but not G(s)-alpha or G(q)-alpha (PubMed:21673108, PubMed:25297897). Signals constitutively also via MAPK1/3 (ERK1/2) (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; REVIEW: functional properties and in vivo biology Review article, [RefSeq, PubMed]; Structural motifs of importance for the constitutive activity of EBI2: analysis of receptor activation in the absence of an agonist., [RefSeq, PubMed]; The EBI2 receptor is coexpressed with CCR5 in CD4 + T cells and boosts HIV-1 R5 replication., [RefSeq, PubMed]; The Oxysterol Receptor EBI2 Links Innate and Adaptive Immunity to Limit IFN Response and Systemic Lupus Erythematosus., [RefSeq, PubMed]; This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled receptor that is most closely related to the thrombin receptor. Expression of this gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 36, "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": "B2R8N5;Q53F99;Q5JUH7", "ec_number_list": [], "go_molecular_function": "GO:0008142 oxysterol binding;GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0002312 B cell activation involved in immune response;GO:0036145 dendritic cell homeostasis;GO:2000458 regulation of astrocyte chemotaxis;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "P32249-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42263-1", "uniprot_id": [ { "id": "GRIA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P42263", "type": "external" } ], "mass": 101157.0, "length": 894, "protein_name": "Glutamate receptor 3", "gene_name": "GRIA3", "organism": "Human", "refseq_name": "glutamate receptor 3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_000819", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000819", "type": "external" } ], "gene_names_uniprotkb": "GRIA3; GLUR3; GLURC; GluA3", "gene_names_refseq": "GLUR-C; GLUR-K3; GLUR3; GLURC; GRIA3; GluA3; MRX94; MRXSW; iGluR3", "protein_names_uniprotkb": "Glutamate receptor 3; AMPA-selective glutamate receptor 3; GluR-3; GluR-C; GluR-K3; Glutamate receptor ionotropic, AMPA 3", "protein_names_refseq": "AMPA receptor subunit GluA3; AMPA-selective glutamate receptor 3; dJ1171F9.1; gluR-3; glutamate receptor 3 isoform 2 precursor; glutamate receptor C; glutamate receptor subunit 3; glutamate receptor, ionotrophic, AMPA 3; glutamate receptor, ionotropic, AMPA 3", "tax_id": 9606, "disease": "syndromic X-linked intellectual disability 94 (Disease Ontology:DOID:0060823); neurodegenerative disease (Disease Ontology:DOID:1289); depressive disorder (Disease Ontology:DOID:1596); central nervous system disease (Disease Ontology:DOID:331); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:2892); (R-HSA-399710); (R-HSA-399719); (R-HSA-416993); (R-HSA-438066); (R-HSA-8849932)", "pathway_count": 6, "publication_count": 39, "publication_id_list": "10602120;10644433;11237011;12172541;12815021;14567697;16055064;16495444;16630835;17322306;17409242;17989220;18227064;18311135;19144831;19217372;19681166;20600927;21172611;24721225;25576301;26321637;27846572;29508533;29557506;30165711;30429286;31154438;31844290;34652536;35031858;35051231;35697757;36215666;38038360;7569905;7918660;8601796;9648857", "class_list": "", "function": "Acetylation of H3K27 activated lncRNA NEAT1 and promoted hepatic lipid accumulation in non-alcoholic fatty liver disease via regulating miR-212-5p/GRIA3., [RefSeq, PubMed]; Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant., [RefSeq, PubMed]; Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human., [RefSeq, PubMed]; Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes., [RefSeq, PubMed]; Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing at this locus results in different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008]., [RefSeq]; Ionotropic glutamate receptor that functions as a ligand-gated cation channel, gated by L-glutamate and glutamatergic agonists such as alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), quisqualic acid, and kainic acid (By similarity). L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system and plays an important role in fast excitatory synaptic transmission by inducing long-term potentiation (By similarity). Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse upon entry of calcium (PubMed:17989220). The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist (PubMed:17989220). In the presence of CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate (PubMed:21172611)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; 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]", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "D3DTF1;Q4VXD5;Q4VXD6;Q9HDA0;Q9HDA1;Q9HDA2;Q9P0H1", "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:0001540 amyloid-beta binding;GO:0004970 glutamate-gated receptor activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0004971 AMPA glutamate receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043197 dendritic spine;GO:0045211 postsynaptic membrane;GO:0030666 endocytic vesicle membrane;GO:0032281 AMPA glutamate receptor complex", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0035249 synaptic transmission, glutamatergic;GO:0051290 protein heterotetramerization;GO:0050804 modulation of chemical synaptic transmission;GO:0060291 long-term synaptic potentiation", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P42263-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48507-1", "uniprot_id": [ { "id": "GSH0_HUMAN", "url": "https://www.uniprot.org/uniprot/P48507", "type": "external" } ], "mass": 30727.0, "length": 274, "protein_name": "Glutamate--cysteine ligase regulatory subunit", "gene_name": "GCLM", "organism": "Human", "refseq_name": "glutamate--cysteine ligase regulatory subunit isoform 2", "refseq_ac": [ { "id": "NP_001295182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295182", "type": "external" } ], "gene_names_uniprotkb": "GCLM; GLCLR", "gene_names_refseq": "GCLM; GLCLR", "protein_names_uniprotkb": "Glutamate--cysteine ligase regulatory subunit; GCS light chain; Gamma-ECS regulatory subunit; Gamma-glutamylcysteine synthetase regulatory subunit; Glutamate--cysteine ligase modifier subunit", "protein_names_refseq": "GCS light chain; GSC light chain; gamma-ECS regulatory subunit; gamma-glutamylcysteine synthetase regulatory subunit; glutamate--cysteine ligase regulatory subunit isoform 2; glutamate-cysteine ligase (gamma-glutamylcysteine synthetase), regulatory (30.8kD); glutamate-cysteine ligase modifier subunit delta2 alternative splicing; glutamate-cysteine ligase regulatory protein", "tax_id": 9606, "disease": "myocardial infarction (Disease Ontology:DOID:5844); vascular dementia (Disease Ontology:DOID:8725)", "pathway": " (hsa:2730); (R-HSA-174403); (R-HSA-5578999); (R-HSA-9818027)", "pathway_count": 4, "publication_count": 102, "publication_id_list": "10369661;10515893;10706635;10733484;10733945;10821856;11309284;12234984;12235164;12473676;12506115;12663448;15448164;15520857;15590625;15728556;16314513;17234762;17924658;17942419;18357469;18515354;19028565;19109178;19273602;19463;19608619;19608861;20460467;21712391;21775727;22667998;22995213;23027624;23301498;23481700;23682772;24041992;25002527;25505266;25576301;2573352;25931127;26154972;26375851;26992070;27100828;27653015;27756681;28218747;28228285;28832583;28834231;28985506;29242379;29437277;29557506;29632711;29693710;29959055;30779550;30833945;31530632;31597407;31844290;32157095;32284348;32387766;32488085;32502341;32601262;32938616;32983136;33043019;33141586;33214551;33298915;33421846;33462411;33592498;33774477;33968037;34019948;34171305;34211107;34357683;34509645;34642912;35051231;35241341;35580925;36010968;36241641;40914422;7646467;7826375;7959763;8813074;9080;9240432;9516961;9675072", "class_list": "", "function": "Association of Polymorphisms of Glutamate Cysteine Ligase Genes GCLC C-129 T and GCLM C-588 T with Risk of Polycystic Ovary Syndrome in Chinese Women., [RefSeq, PubMed]; Association of glutamate cystein ligase (GCL) activity Peroxiredoxin 4 (prxR4) and apelin levels in women with preeclampsia., [RefSeq, PubMed]; Glutamate-cysteine ligase catalytic and its modifier function as novel immunotargets in gastric adenocarcinoma., [RefSeq, PubMed]; Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K334;D3DT45;M5A959;Q6FHC1;Q9NPX9;Q9NU74", "ec_number_list": [], "go_molecular_function": "GO:0035226 glutamate-cysteine ligase catalytic subunit binding;GO:0044877 protein-containing complex binding;GO:0004357 glutamate-cysteine ligase activity;GO:1990609 glutamate-cysteine ligase regulator activity", "go_cellular_component": "GO:0017109 glutamate-cysteine ligase complex;GO:0005829 cytosol", "go_biological_process": "GO:0006750 glutathione biosynthetic process;GO:0097069 cellular response to thyroxine stimulus;GO:0035733 hepatic stellate cell activation;GO:0006536 glutamate metabolic process;GO:0006979 response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "P48507-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59796-1", "uniprot_id": [ { "id": "GPX6_HUMAN", "url": "https://www.uniprot.org/uniprot/P59796", "type": "external" } ], "mass": 24971.0, "length": 221, "protein_name": "Glutathione peroxidase 6", "gene_name": "GPX6", "organism": "Human", "refseq_name": "glutathione peroxidase 6 precursor", "refseq_ac": [ { "id": "NP_874360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_874360", "type": "external" } ], "gene_names_uniprotkb": "GPX6", "gene_names_refseq": "GPX5p; GPX6; GPXP3; GPx-6; GSHPx-6; dJ1186N24.1; dJ1186N24", "protein_names_uniprotkb": "Glutathione peroxidase 6; 1.11.1.9; GPx-6; GSHPx-6", "protein_names_refseq": "glutathione peroxidase 6 (olfactory); glutathione peroxidase 6 precursor; selenoprotein GPX6", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:257202); (R-HSA-3299685)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10029572;10514471;10521424;10656833;10833429;10919671;10982;11018045;11139407;11237011;11507097;11518528;11886899;11912930;12446202;12775843;12829378;15044467;15046979;15064408;15280035;15317809;15596429;15927447;16401067;16615992;1668270;16750198;16880213;17275676;17519234;1763037;17707404;18358825;18703498;18936159;19219623;19542232;19913121;1999334;20070187;20200426;20367259;20628086;20690882;2071038;21215271;21385867;21393238;21967640;22493009;22869735;22910329;23152058;23164639;23454490;23455484;25047527;34357683;3457020;34688818;3532102;3619451;3693360;5389100;60;6286671;6961438;7021796;7172448;7487923;807573;8379940;8428933;8452552;8663465;9295278;9369223;9639555;9726962;9923614", "class_list": "", "function": "Association between genetic variants in oxidative stress-related genes and osteoporotic bone fracture. The Hortega follow-up study., [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 protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. Expression of this gene has been observed in embryos and olfactory epithelium; however, the exact function of this gene is not known. This isozyme is a selenoprotein in humans, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The orthologs of this gene in mouse and rat (and some other species) contain a cysteine (Cys) residue in place of the Sec residue, and their corresponding mRNAs lack SECIS element. [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": 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": "Q4PJ17", "ec_number_list": [ { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "1.11.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.12", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" } ], "go_molecular_function": "GO:0004602 glutathione peroxidase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0034599 cellular response to oxidative stress;GO:0006979 response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P59796-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78417-1", "uniprot_id": [ { "id": "GSTO1_HUMAN", "url": "https://www.uniprot.org/uniprot/P78417", "type": "external" } ], "mass": 27566.0, "length": 241, "protein_name": "Glutathione S-transferase omega-1", "gene_name": "GSTO1", "organism": "Human", "refseq_name": "glutathione S-transferase omega-1 isoform 2", "refseq_ac": [ { "id": "NP_001177931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177931", "type": "external" } ], "gene_names_uniprotkb": "GSTO1; GSTTLP28", "gene_names_refseq": "GSTO 1-1; GSTO1; GSTTLp28; HEL-S-21; P28; SPG-R", "protein_names_uniprotkb": "Glutathione S-transferase omega-1; 1.20.4.2; 1.8.5.1; 2.5.1.18; GSTO 1-1; GSTO-1; Glutathione S-transferase omega 1-1; Glutathione-dependent dehydroascorbate reductase; MMA(V) reductase; Monomethylarsonic acid reductase; S-(Phenacyl)glutathione reductase; SPG-R", "protein_names_refseq": "MMA(V) reductase; S-(Phenacyl)glutathione reductase; epididymis secretory protein Li 21; glutathione S-transferase omega 1-1; glutathione S-transferase omega-1 isoform 2; glutathione-S-transferase like; glutathione-dependent dehydroascorbate reductase; monomethylarsonic acid reductase", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 6 (Disease Ontology:DOID:0060198); Alzheimer's disease (Disease Ontology:DOID:10652); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); colon adenocarcinoma (Disease Ontology:DOID:234)", "pathway": " (hsa:9446); (R-HSA-156581); (R-HSA-156590); (R-HSA-196836); (R-HSA-8950505)", "pathway_count": 5, "publication_count": 120, "publication_id_list": "10329152;10331075;10471399;10514445;10556483;10556521;10587441;10644686;10783391;10862609;10978155;11237011;11271497;11327815;11396616;11511179;11904223;12042665;12163696;12211029;12590576;12618591;12627223;12928150;13981612;14742434;15788214;15970797;15992993;16038020;16081649;16267626;16298388;16407288;16548513;17226937;17377532;18028863;18539146;18984734;19562805;19608861;20068231;20083122;20085333;21106529;21193388;21668448;22522127;23162467;23301498;23819933;24275569;24734162;25418920;26992070;27570878;27600516;27846572;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29557506;29632711;30315122;30379171;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32387766;32870666;32938616;32983136;33141586;33298915;33592498;3372534;33968037;34229054;34357683;34826418;34959192;35138101;35251023;35580925;36051533;36129143;36215666;36241641;3770744;38665916;38750006;40596516;40930100;4768551;7668255;8182750;8203914;8331657;8431482;8513896;8703034;8812420;8968737;9175157;9228080;9278457;9551553;9586999;9839448", "class_list": "", "function": "Association of GSTO1, GSTO2, GSTP1, GPX1 and SOD2 polymorphism with primary open angle glaucoma., [RefSeq, PubMed]; Exhibits glutathione-dependent thiol transferase activity. Has high dehydroascorbate reductase activity and may contribute to the recycling of ascorbic acid. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA)., [UniProtKB, UniProtKB]; Exhibits glutathione-dependent thiol transferase and dehydroascorbate reductase activities. Has S-(phenacyl)glutathione reductase activity. Also has glutathione S-transferase activity. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA) and dimethylarsonic acid., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; GSTO1 confers drug resistance in HCT116 colon cancer cells through an interaction with TNFalphaIP3/A20., [RefSeq, PubMed]; Glutathione S-transferase omega class 1 (GSTO1)-associated large extracellular vesicles are involved in tumor-associated macrophage-mediated cisplatin resistance in bladder cancer., [RefSeq, PubMed]; Proposed mechanism for monomethylarsonate reductase activity of human omega-class glutathione transferase GSTO1-1., [RefSeq, PubMed]; The Role of CD40, CD86, and Glutathione S-Transferase Omega 1 in the Pathogenesis of Chronic Obstructive Pulmonary Disease. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an omega class glutathione S-transferase (GST) with glutathione-dependent thiol transferase and dehydroascorbate reductase activities. GSTs are involved in the metabolism of xenobiotics and carcinogens. The encoded protein acts as a homodimer and is found in the cytoplasm. Three transcript variants encoding different isoforms have been found for this gene. [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": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DRA3;F5H7H0;Q5TA03;Q7Z3T2", "ec_number_list": [ { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "5.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.2", "type": "external" }, { "id": "5.3.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.2", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "1.20.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.20.4.2", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" } ], "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0016491 oxidoreductase activity;GO:0045174 glutathione dehydrogenase (ascorbate) activity;GO:0050610 methylarsonate reductase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0051280 negative regulation of release of sequestered calcium ion into cytosol;GO:0014810 positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion;GO:0051281 positive regulation of release of sequestered calcium ion into cytosol;GO:0042178 xenobiotic catabolic process;GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P78417-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14439-1", "uniprot_id": [ { "id": "GP176_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14439", "type": "external" } ], "mass": 56998.0, "length": 515, "protein_name": "G protein-coupled receptor 176", "gene_name": "GPR176", "organism": "Human", "refseq_name": "G-protein coupled receptor 176 isoform 2", "refseq_ac": [ { "id": "NP_001258783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258783", "type": "external" } ], "gene_names_uniprotkb": "GPR176", "gene_names_refseq": "GPR176; HB-954", "protein_names_uniprotkb": "G protein-coupled receptor 176; HB-954", "protein_names_refseq": "G-protein coupled receptor 176 isoform 2; probable G-protein coupled receptor 176", "tax_id": 9606, "disease": "", "pathway": " (hsa:11245); (R-HSA-418555)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "11007482;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15765929;15769620;15951850;16313925;16687412;16923326;17168849;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;2553411;2553705;26417854;28502923;2871555;29443750;29602314;30524438;30833991;3127824;31279028;31399091;31983287;32157095;32226383;32497535;32540603;32618402;32715661;32938616;33049737;34509645;35051231;35494241;36905238;37291181;37584712;38835234;39047914;6085243;7893747;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "Data suggest that Gpr176 is an SCN-(suprachiasmatic nucleus-)enriched orphan GPCR (G-protein-coupled receptor) that sets the pace of circadian behavior. [REVIEW] Review article, [RefSeq, PubMed]; GPR176 Promotes Cancer Progression by Interacting with G Protein GNAS to Restrain Cell Mitophagy in Colorectal Cancer., [RefSeq, PubMed]; GPR176 promotes fibroblast-to-myofibroblast transition in organ fibrosis progression., [RefSeq, PubMed]; High expression of GPR176 predicts poor prognosis of gastric cancer patients and promotes the proliferation, migration, and invasion of gastric cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Members of the G protein-coupled receptor family, such as GPR176, are cell surface receptors involved in responses to hormones, growth factors, and neurotransmitters (Hata et al., 1995 [PubMed 7893747]).[supplied by OMIM, Jul 2008]., [RefSeq]; Orphan receptor involved in normal circadian rhythm behavior. Acts through the G protein subclass G(z)-alpha and has an agonist-independent basal activity to repress cAMP production., [UniProtKB, UniProtKB]; The oncogenic roles of GPR176 in ovarian cancer: a molecular target for aggressiveness and gene therapy., [RefSeq, PubMed]; The promoting effects of GPR176 expression on proliferation, chemoresistance, lipogenesis and invasion of oesophageal cancer., [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": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DZ23;H9NIL9;J3KNC6;Q6NXF6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007268 chemical synaptic transmission;GO:0048512 circadian behavior", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q14439-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16661-1", "uniprot_id": [ { "id": "GUC2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16661", "type": "external" } ], "mass": 12069.0, "length": 112, "protein_name": "Guanylate cyclase activator 2B", "gene_name": "GUCA2B", "organism": "Human", "refseq_name": "guanylate cyclase activator 2B preproprotein", "refseq_ac": [ { "id": "NP_009033", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009033", "type": "external" } ], "gene_names_uniprotkb": "GUCA2B", "gene_names_refseq": "GCAP-II; GUCA2B; UGN", "protein_names_uniprotkb": "Guanylate cyclase activator 2B; GCAP-II; Guanylate cyclase C-activating peptide II", "protein_names_refseq": "guanylate cyclase activator 2B preproprotein; prepro-uroguanylin; uroguanylin", "tax_id": 9606, "disease": "", "pathway": " (hsa:2981); (R-HSA-8935690)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "11123935;15951572;19960363;23269669;29289697;30266914;31154438;34990711;35051231;7589507;7902563;8095028;8141334;8390480;8519795;8605041;9079676;9268639;9774236", "class_list": "", "function": "Endogenous activator of intestinal guanylate cyclase. It stimulates this enzyme through the same receptor binding region as the heat-stable enterotoxins. May be a potent physiological regulator of intestinal fluid and electrolyte transport. May be an autocrine/paracrine regulator of intestinal salt and water transport., [UniProtKB]; Guanylin and uroguanylin, as well as their prohormones, do not seem to play a significant role in body weight regulation and glycemic control, suggesting that guanylin-family peptides do not show promise as targets for the treatment of obesity or diabetes., [RefSeq, PubMed]; High plasma and lingual uroguanylin as potential contributors to changes in food preference after sleeve gastrectomy., [RefSeq, PubMed]; This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products, including uroguanylin, a member of the guanylin family of peptides and an endogenous ligand of the guanylate cyclase-C receptor. Binding of this peptide to its cognate receptor stimulates an increase in cyclic GMP and may regulate salt and water homeostasis in the intestine and kidneys. [provided by RefSeq, Nov 2015]., [RefSeq]; This study investigates pro-uroguanylin circulating levels in children with obesity and its relationship with obesity, sex and pubertal development. Sexual dimorphism exists in circulating pro-uroguanylin levels with respect to Body Mass Index. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q52LV0", "ec_number_list": [], "go_molecular_function": "GO:0030250 guanylate cyclase activator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0070062 extracellular exosome", "go_biological_process": "GO:0060612 adipose tissue development;GO:0035264 multicellular organism growth;GO:0042593 glucose homeostasis;GO:0009749 response to glucose;GO:0002023 reduction of food intake in response to dietary excess", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q16661-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2KHT4-1", "uniprot_id": [ { "id": "GSG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2KHT4", "type": "external" } ], "mass": 39248.0, "length": 349, "protein_name": "Germ cell-specific gene 1 protein", "gene_name": "GSG1", "organism": "Human", "refseq_name": "germ cell-specific gene 1 protein isoform 3", "refseq_ac": [ { "id": "NP_001074023", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074023", "type": "external" } ], "gene_names_uniprotkb": "GSG1; PRO1360", "gene_names_refseq": "GSG1", "protein_names_uniprotkb": "Germ cell-specific gene 1 protein", "protein_names_refseq": "germ cell-specific gene 1 protein isoform 3; germ cell-specific gene 1 protein; testicular secretory protein Li 20", "tax_id": 9606, "disease": "", "pathway": " (hsa:83445)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;12975309;33141586", "class_list": "", "function": "May cause the redistribution of PAPOLB from the cytosol to the endoplasmic reticulum., [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": 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": "Q8N4M3;Q8NBR4;Q8NBS0;Q8NBT1;Q96LP9;Q96SI6;Q9BUY4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q2KHT4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3V6T2-1", "uniprot_id": [ { "id": "GRDN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3V6T2", "type": "external" } ], "mass": 216042.0, "length": 1871, "protein_name": "Girdin", "gene_name": "CCDC88A", "organism": "Human", "refseq_name": "girdin isoform 1", "refseq_ac": [ { "id": "NP_001129069", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129069", "type": "external" } ], "gene_names_uniprotkb": "CCDC88A; APE; GRDN; KIAA1212", "gene_names_refseq": "APE; CCDC88A; GIRDIN; GIV; GRDN; HkRP1; KIAA1212; PEHOL; PEHO", "protein_names_uniprotkb": "Girdin; APE; Akt phosphorylation enhancer; Coiled-coil domain-containing protein 88A; G alpha-interacting vesicle-associated protein; GIV; Girders of actin filament; HkRP1; Hook-related protein 1", "protein_names_refseq": "AKT-phosphorylation enhancer; Hook-related protein 1; coiled-coil domain containing 88A; g alpha-interacting vesicle-associated protein; girders of actin filaments; girdin isoform 1", "tax_id": 9606, "disease": "PEHO-like syndrome (MONDO:MONDO:0020495)", "pathway": " (hsa:55704); (R-HSA-9696264); (R-HSA-9696273)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "10.1101/2023.09.13.557529;10664463;11237011;11784792;11940653;12842009;15738000;15749703;15882442;16139227;17185515;18669648;18996843;19103606;19211784;20462955;20811643;21954290;23186163;23481700;23509302;24690281;24715725;25187647;25576301;25645385;26154972;26375851;26917597;26969432;26992070;27600516;27621449;27623382;27813479;27846572;27864364;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29508533;29538402;29557506;29632711;29786170;29789417;30194280;30315122;30379171;30429286;31154438;31217245;31363053;31530632;31844290;31848261;31871319;31998317;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33717652;33912179;33968037;34171305;34509645;34561969;34932366;35051231;35494241;35561310;35580925;36010968;36241641;36284347;37503752;37532779;37548867;37923359;8649376;9531558", "class_list": "", "function": "Bifunctional modulator of guanine nucleotide-binding proteins (G proteins) (PubMed:19211784, PubMed:27621449). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein G(i) alpha subunits (PubMed:19211784, PubMed:21954290, PubMed:23509302, PubMed:25187647). Also acts as a guanine nucleotide dissociation inhibitor for guanine nucleotide-binding protein G(s) subunit alpha GNAS (PubMed:27621449). Essential for cell migration (PubMed:16139227, PubMed:19211784, PubMed:20462955, PubMed:21954290). Interacts in complex with G(i) alpha subunits with the EGFR receptor, retaining EGFR at the cell membrane following ligand stimulation and promoting EGFR signaling which triggers cell migration (PubMed:20462955). Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G protein complex which enhances phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB (PubMed:19211784). Phosphorylation of AKT1/PKB induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation (By similarity). Binds in its tyrosine-phosphorylated form to the phosphatidylinositol 3-kinase (PI3K) regulatory subunit PIK3R1 which enables recruitment of PIK3R1 to the EGFR receptor, enhancing PI3K activity and cell migration (PubMed:21954290). Plays a role as a key modulator of the AKT-mTOR signaling pathway, controlling the tempo of the process of newborn neuron integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation (By similarity). Inhibition of G(s) subunit alpha GNAS leads to reduced cellular levels of cAMP and suppression of cell proliferation (PubMed:27621449). Essential for the integrity of the actin cytoskeleton (PubMed:16139227, PubMed:19211784). Required for formation of actin stress fibers and lamellipodia (PubMed:15882442). May be involved in membrane sorting in the early endosome (PubMed:15882442). Plays a role in ciliogenesis and cilium morphology and positioning and this may partly be through regulation of the localization of scaffolding protein CROCC/Rootletin (PubMed:27623382)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; GIV is a novel Galpha-interacting protein associated with COPI transport vesicles that may play a role in Galpha-mediated effects on vesicle trafficking within the Golgi and/or between the ER and the Golgi, [RefSeq, PubMed]; Girdin regulates both migration and angiogenesis in pancreatic cancer cell lines., [RefSeq, PubMed]; HkRP1 is involved in the process of tubulation of sorting nexin-1 positive membranes from early endosome subdomains GeneRIF: A novel Hook-related protein family and the characterisation of Hook-related protein 1., [RefSeq, PubMed]; Hsa-miR-199b-3p suppresses osteosarcoma progression by targeting CCDC88A, inhibiting epithelial-to-mesenchymal transition, and Wnt/beta-catenin signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Integrins regulate hERG1 dynamics by girdin-dependent Galphai3: signaling and modeling in cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; The Girdin(or Akt-phosphorylation enhancer) is an actin binding protein, and Girdin is essential for the integrity of the actin cytoskeleton and cell migration and provide a direct link between Akt and cell motility., [RefSeq, PubMed]; This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; Upregulation of girdin delays endothelial cell apoptosis via promoting engulfment of platelets., [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": 4, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A1IGE7;B7ZM78;C9JG83;Q53SF1;Q581G3;Q5HYD0;Q7Z339;Q7Z3C5", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005158 insulin receptor binding;GO:0008017 microtubule binding;GO:0042803 protein homodimerization activity;GO:0005080 protein kinase C binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0007399 nervous system development;GO:0016477 cell migration;GO:0032956 regulation of actin cytoskeleton organization;GO:0042127 regulation of cell population proliferation;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q3V6T2-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q58FF6-1", "uniprot_id": [ { "id": "H90B4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q58FF6", "type": "external" } ], "mass": 58264.0, "length": 505, "protein_name": "Putative heat shock protein HSP 90-beta 4", "gene_name": "HSP90AB4P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "HSP90AB4P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative heat shock protein HSP 90-beta 4", "protein_names_refseq": "", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": "", "pathway_count": 0, "publication_count": 13, "publication_id_list": "10.1101/2023.09.13.557529;16269234;28510447;30484775;31530632;31848261;32387766;33141586;33392160;35051231;35154160;36010968;37217939", "class_list": "", "function": "Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity;GO:0140662 ATP-dependent protein folding chaperone", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0034605 cellular response to heat;GO:0050821 protein stabilization;GO:0006457 protein folding;GO:0022618 protein-RNA complex assembly", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q58FF6-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T6X5-1", "uniprot_id": [ { "id": "GPC6A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T6X5", "type": "external" } ], "mass": 104753.0, "length": 926, "protein_name": "G protein-coupled receptor family C group 6 member A", "gene_name": "GPRC6A", "organism": "Human", "refseq_name": "G-protein coupled receptor family C group 6 member A isoform 2 precursor", "refseq_ac": [ { "id": "NP_001273283", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273283", "type": "external" } ], "gene_names_uniprotkb": "GPRC6A", "gene_names_refseq": "GPCR; GPRC6A; bA86F4.3", "protein_names_uniprotkb": "G protein-coupled receptor family C group 6 member A; G protein-coupled receptor GPCR33; hGPCR33; hGPRC6A", "protein_names_refseq": "G protein-coupled receptor, family C, group 6, member A; G-protein coupled receptor GPCR33; G-protein coupled receptor family C group 6 member A isoform 2 precursor; predicted with SOSUI analysis; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:222545); (R-HSA-416476); (R-HSA-420499)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "10191087;10567430;10727532;10861009;11015615;11208605;11742120;11753430;11917125;12044878;12120503;1329206;15194188;15576628;15951850;16182515;16199532;16268778;16339447;16754659;16923326;18434541;18491316;18515384;18577758;18936096;1905813;19664994;20022913;20555319;20947496;21148030;23121374;23555315;23674604;24235081;24715725;25617829;26735260;27071541;2841328;28832583;29614098;3086311;31154438;32387766;32859544;33474566;35051231;35482214;36284347;7476890;7617140;7620613;7623957;7759551;7908515;7937899;8664309;8887960;9131252;9144337;9144651;9305846;9473604;9770463;9844003;9872316", "class_list": "", "function": "Analysis of GPRC6A variants in different pancreatitis etiologies., [RefSeq, PubMed]; Elucidating agonist interaction with GPRC6A, a novel family C G-protein-coupled receptor., [RefSeq, PubMed]; Explaining Divergent Observations Regarding Osteocalcin/GPRC6A Endocrine Signaling. Review article, [RefSeq, PubMed]; GPRC6A is a cation-, calcimimetic-, and osteocalcin-sensing receptor, [RefSeq, PubMed]; GPRC6A is widely expressed in brain and peripheral tissues with highest levels in kidney, skeletal muscle, testis, and leucocytes., [RefSeq, PubMed]; Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C, including GPRC6A, also have a long N-terminal domain (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010]., [RefSeq]; RS 2247911 polymorphism of GPRC6A gene and serum undercarboxylated-osteocalcin are associated with testis function., [RefSeq, PubMed]; Receptor activated by multiple ligands, including osteocalcin (BGLAP), basic amino acids, and various cations (PubMed:15576628). Activated by amino acids with a preference for basic amino acids such as L-Lys, L-Arg and L-ornithine but also by small and polar amino acids (PubMed:15576628). The L-alpha amino acids respond is augmented by divalent cations Ca(2+) and Mg(2+) (By similarity). Seems to act through a G(q)/G(11) and G(i)-coupled pathway (By similarity). Regulates testosterone production by acting as a ligand for uncarboxylated osteocalcin hormone: osteocalcin-binding at the surface of Leydig cells initiates a signaling response that promotes the expression of enzymes required for testosterone synthesis in a CREB-dependent manner (By similarity). Mediates the non-genomic effects of androgens in multiple tissue (By similarity). May coordinate nutritional and hormonal anabolic signals through the sensing of extracellular amino acids, osteocalcin, divalent ions and its responsiveness to anabolic steroids (PubMed:20947496)., [UniProtKB, PubMed, PubMed, 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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 60, "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": "Q6JK43;Q6JK44;Q8NGU8;Q8NHZ9;Q8TDT6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008528 G protein-coupled peptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0043200 response to amino acid;GO:2000224 regulation of testosterone biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q5T6X5-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NXT2-1", "uniprot_id": [ { "id": "H3C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NXT2", "type": "external" } ], "mass": 15214.0, "length": 135, "protein_name": "Histone H3.3C", "gene_name": "H3-5", "organism": "Human", "refseq_name": "histone H3.3C", "refseq_ac": [ { "id": "NP_001013721", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013721", "type": "external" } ], "gene_names_uniprotkb": "H3-5; H3F3C", "gene_names_refseq": "H3-5; H3.3C; H3.5; H3F3C", "protein_names_uniprotkb": "Histone H3.3C; Histone H3.5", "protein_names_refseq": "H3 histone family member 3C; H3 histone, family 3C; histone H3.3C; histone H3.5; histone variant H3.5", "tax_id": 9606, "disease": "diffuse midline glioma, H3 K27-altered (Disease Ontology:DOID:0080684)", "pathway": " (hsa:440093)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "15851689;1922338;20068231;20112406;20850016;21224338;21274551;24366607;25469497;26552660;26824387;28904123;29179259;30410026;31530632;31844290;32265295;32488085;33392160;33912179;33981976", "class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Hominid-specific H3.5/H3F3C preferentially colocalizes with euchromatin, and it is associated with actively transcribed genes., [UniProtKB, PubMed]; H3.5 may play roles in DNA synthesis, but not apoptosis, and its expression is regulated by gonadotropins, [RefSeq, PubMed]; H3.5 preferentially colocalizes with euchromatin, and it is associated with actively transcribed genes and can replace an essential function of RNAi-depleted H3.3 in cell growth., [RefSeq, PubMed]; 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 contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded by this gene is a replication-independent histone that is a member of the histone H3 family. [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": 12, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "E9P281", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0031492 nucleosomal DNA binding;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000776 kinetochore;GO:0000791 euchromatin;GO:0000786 nucleosome", "go_biological_process": "GO:0051382 kinetochore assembly;GO:0030307 positive regulation of cell growth;GO:0007080 mitotic metaphase chromosome alignment;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q6NXT2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P1K1-1", "uniprot_id": [ { "id": "HRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P1K1", "type": "external" } ], "mass": 16419.0, "length": 146, "protein_name": "Heme transporter HRG1", "gene_name": "SLC48A1", "organism": "Human", "refseq_name": "heme transporter HRG1", "refseq_ac": [ { "id": "NP_060312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060312", "type": "external" } ], "gene_names_uniprotkb": "SLC48A1; HRG1", "gene_names_refseq": "HRG-1; HRG1; SLC48A1; hHRG-1", "protein_names_uniprotkb": "Heme transporter HRG1; HRG-1; Heme-responsive gene 1 protein homolog; Solute carrier family 48 member 1; hHRG-1", "protein_names_refseq": "heme transporter HRG1; heme-responsive gene 1 protein homolog; solute carrier family 48 (heme transporter), member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55652)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;18418376;19875448;19913121;20628086;22174408;23395172;24141772;29242379;34357683", "class_list": "", "function": "A model in which heme is translocated across membranes facilitated by conserved amino acids positioned on the exoplasmic, cytoplasmic, and transmembrane regions of HRG-1-related proteins., [RefSeq, PubMed]; HRG-1 may represent a novel target for selectively disrupting V-ATPase activity and the metastatic potential of cancer cells., [RefSeq, PubMed]; HRG-1 regulates V-ATPase activity, which is essential for endosomal acidification, heme binding, and receptor trafficking in mammalian cells., [RefSeq, PubMed]; Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal compartment (PubMed:18418376). In macrophages of the reticuloendothelial system, is the heme transporter for heme-iron recycling. Essential for macrophage iron homeostasis, transports heme from the phagolysosome to the cytoplasm during erythrophagocytosis (EP) (PubMed:23395172)., [UniProtKB, PubMed, PubMed]; Human and worm proteins localize together, and bind and transport haem, thus establishing an evolutionarily conserved function for HRG-1., [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]; These results reveal HRG1 as the long-sought heme transporter for heme-iron recycling in macrophages and suggest that genetic variations in HRG1 could be modifiers of human iron metabolism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BUB3;Q9NX17", "ec_number_list": [], "go_molecular_function": "GO:0015232 heme transmembrane transporter activity;GO:0020037 heme binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0010008 endosome membrane;GO:0061474 phagolysosome membrane;GO:0036019 endolysosome", "go_biological_process": "GO:0006909 phagocytosis;GO:0015886 heme transport;GO:0042168 heme metabolic process;GO:0097037 heme export;GO:0140357 heme export from vacuole to cytoplasm", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6P1K1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTV2-1", "uniprot_id": [ { "id": "GSTA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTV2", "type": "external" } ], "mass": 25722.0, "length": 222, "protein_name": "Glutathione S-transferase A5", "gene_name": "GSTA5", "organism": "Human", "refseq_name": "glutathione S-transferase A5", "refseq_ac": [ { "id": "NP_714543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_714543", "type": "external" } ], "gene_names_uniprotkb": "GSTA5", "gene_names_refseq": "GSTA5", "protein_names_uniprotkb": "Glutathione S-transferase A5; 2.5.1.18; GST class-alpha member 5; Glutathione S-transferase A5-5", "protein_names_refseq": "GST class-alpha member 5; glutathione S-transferase A5-5; glutathione S-transferase A5", "tax_id": 9606, "disease": "", "pathway": " (hsa:221357); (R-HSA-156590)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10329152;10587441;10783391;11237011;11327815;11904223;12042665;12211029;12627223;14742434;16081649;16298388;16548513;19664689;20083122;20085333;20166139;20200426;21106529;21668448;22522127;23162467;31844290;32938616;3372534;3770744;4768551;8182750;8203914;8331657;8431482;8703034;8812420;9278457;9551553;9839448", "class_list": "", "function": "Data show that hGSTA5 can be processed to a mature mRNA which is translation-competent, producing a catalytically active enzyme., [RefSeq, PubMed]; The glutathione S-transferases (GST; EC 2.5.1.18) catalyze the conjugation of reduced glutathiones and a variety of electrophiles, including many known carcinogens and mutagens. The cytosolic GSTs belong to a large superfamily, with members located on different chromosomes. For additional information on GSTs, see GSTA1 (MIM 138359).[supplied by OMIM, Sep 2008]., [RefSeq]; We observed suggestive associations between survival and GSTT1 copy number and GSTA5, GSTM4, and ABCC4 single nucleotide polymorphisms 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": 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": "Q5SZC2", "ec_number_list": [ { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "5.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.2", "type": "external" }, { "id": "5.3.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.2", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "1.20.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.20.4.2", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" } ], "go_molecular_function": "GO:0004364 glutathione transferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q7RTV2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4Z0-2", "uniprot_id": [ { "id": "RAB42_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4Z0", "type": "external" } ], "mass": 24133.0, "length": 218, "protein_name": "Ras-related protein Rab-42", "gene_name": "RAB42", "organism": "Human", "refseq_name": "ras-related protein Rab-42 isoform 2", "refseq_ac": [ { "id": "NP_689517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689517", "type": "external" } ], "gene_names_uniprotkb": "RAB42", "gene_names_refseq": "RAB42", "protein_names_uniprotkb": "Ras-related protein Rab-42; 3.6.5.2", "protein_names_refseq": "RAB42, member RAS homolog family; putative Ras-related protein Rab-42; ras-related protein Rab-42 isoform 2; ras-related protein Rab-42", "tax_id": 9606, "disease": "", "pathway": " (hsa:115273); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11141079;11389151;11447212;11675392;16401880;1648736;17114793;17411337;18532927;19603039;22694141;24023390;25341920;26969162;32357974;32938616;34433824;35051231;35580925;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150", "class_list": "", "function": "The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). The physiological function of RAB42 remains undefined (Probable)., [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": 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": "A0A1W2PQ57;B2R5G2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8N4Z0-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DV4-1", "uniprot_id": [ { "id": "RM38_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DV4", "type": "external" } ], "mass": 44597.0, "length": 380, "protein_name": "Large ribosomal subunit protein mL38", "gene_name": "MRPL38", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL38 precursor", "refseq_ac": [ { "id": "NP_115867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115867", "type": "external" } ], "gene_names_uniprotkb": "MRPL38; HSPC262", "gene_names_refseq": "HSPC262; L38MT; MRP-L38; MRP-L3; MRPL38; RPML3; mL38", "protein_names_uniprotkb": "Large ribosomal subunit protein mL38; 39S ribosomal protein L38, mitochondrial; L38mt; MRP-L38", "protein_names_refseq": "39S ribosomal protein L38, mitochondrial; large ribosomal subunit protein mL38 precursor; mitochondrial large ribosomal subunit protein mL38", "tax_id": 9606, "disease": "", "pathway": " (hsa:64978); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 47, "publication_id_list": "11543634;15358359;17803939;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;23481700;25233460;25278503;25838379;26154972;26992070;27029019;27600516;27846572;27920218;28228285;28510447;28834231;28892042;30971721;31217245;31844290;32157095;32938616;33141586;33243891;33298915;33878294;33912179;34087483;34185709;34357683;35051231;35177605;35580925;36010968;36302763;36596788;37141370;37938771;40914422", "class_list": "", "function": "A Multi-Trait Approach Identified Genetic Variants Including a Rare Mutation in RGS3 with Impact on Abnormalities of Cardiac Structure/Function. Publication Status: Online-Only, [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KN96;Q96Q66;Q9P0B9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q96DV4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23246-1", "uniprot_id": [ { "id": "SFPQ_HUMAN", "url": "https://www.uniprot.org/uniprot/P23246", "type": "external" } ], "mass": 76149.0, "length": 707, "protein_name": "Splicing factor, proline- and glutamine-rich", "gene_name": "SFPQ", "organism": "Human", "refseq_name": "splicing factor, proline- and glutamine-rich", "refseq_ac": [ { "id": "NP_005057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005057", "type": "external" } ], "gene_names_uniprotkb": "SFPQ; PSF", "gene_names_refseq": "POMP100; PPP1R140; PSF; SFPQ", "protein_names_uniprotkb": "Splicing factor, proline- and glutamine-rich; 100 kDa DNA-pairing protein; DNA-binding p52/p100 complex, 100 kDa subunit; PSF; PTB-associated-splicing factor; Polypyrimidine tract-binding protein-associated-splicing factor; hPOMp100", "protein_names_refseq": "100 kDa DNA-pairing protein; DNA-binding p52/p100 complex, 100 kDa subunit; PTB-associated splicing factor; epididymis secretory sperm binding protein; polypyrimidine tract binding protein associated; polypyrimidine tract-binding protein-associated splicing factor; protein phosphatase 1, regulatory subunit 140; splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated); splicing factor proline/glutamine-rich; splicing factor, proline- and glutamine-rich", "tax_id": 9606, "disease": "", "pathway": " (hsa:6421); (R-HSA-8849468); (R-HSA-9635465)", "pathway_count": 3, "publication_count": 172, "publication_id_list": "10653975;10847580;10858305;10913193;10931916;11237011;11259580;11514619;11525732;11897684;12403470;12482964;14654843;15471878;15590677;16179349;16767080;17081983;17287340;17537995;17965020;18042045;18212344;18220336;18446792;18655028;18669648;19413330;19439179;19531498;19608861;19651622;19664994;19690332;20068231;20305658;20454556;20932480;21406692;21740066;21933836;22121020;22275911;22424782;22544926;23186163;23555621;23783831;24129315;24714562;24715725;2480877;25187516;25218447;25576301;25755297;25765647;25780035;25802875;26030138;26154972;26811146;26992070;27543614;27600516;27655845;27698396;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28712728;28832583;28834231;28855257;28904123;29242379;29317506;29331515;29393594;29437277;29493099;29508533;29557506;29605689;29632046;29632711;29786170;30192525;30315122;30397120;30410026;30429286;30444036;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32938750;32983136;33043033;33141586;33214551;33298915;33392160;33465208;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34561969;34725712;34932366;35051231;35083852;35154160;35251023;35254053;35289036;35318648;35561310;35580925;36010968;36215666;36284347;36580660;37217939;37938771;38665916;39250314;39302247;39534244;40596516;40930100;41018975;8045264;8439294;8449401;9393982;9409622;9756848;9848648", "class_list": "", "function": "DNA- and RNA binding protein, involved in several nuclear processes. Essential pre-mRNA splicing factor required early in spliceosome formation and for splicing catalytic step II, probably as a heteromer with NONO. Binds to pre-mRNA in spliceosome C complex, and specifically binds to intronic polypyrimidine tracts. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45, a phosphorylated form is sequestered by THRAP3 from the pre-mRNA in resting T-cells; T-cell activation and subsequent reduced phosphorylation is proposed to lead to release from THRAP3 allowing binding to pre-mRNA splicing regulatotry elements which represses exon inclusion. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3' side of U5 snRNA stem 1b. May be involved in a pre-mRNA coupled splicing and polyadenylation process as component of a snRNP-free complex with SNRPA/U1A. The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclear retention of defective RNAs. SFPQ may be involved in homologous DNA pairing; in vitro, promotes the invasion of ssDNA between a duplex DNA and produces a D-loop formation. The SFPQ-NONO heteromer may be involved in DNA unwinding by modulating the function of topoisomerase I/TOP1; in vitro, stimulates dissociation of TOP1 from DNA after cleavage and enhances its jumping between separate DNA helices. The SFPQ-NONO heteromer binds DNA (PubMed:25765647). The SFPQ-NONO heteromer may be involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination and may stabilize paired DNA ends; in vitro, the complex strongly stimulates DNA end joining, binds directly to the DNA substrates and cooperates with the Ku70/G22P1-Ku80/XRCC5 (Ku) dimer to establish a functional preligation complex. SFPQ is involved in transcriptional regulation. Functions as a transcriptional activator (PubMed:25765647). Transcriptional repression is mediated by an interaction of SFPQ with SIN3A and subsequent recruitment of histone deacetylases (HDACs). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. SFPQ isoform Long binds to the DNA binding domains (DBD) of nuclear hormone receptors, like RXRA and probably THRA, and acts as a transcriptional corepressor in absence of hormone ligands. Binds the DNA sequence 5'-CTGAGTC-3' in the insulin-like growth factor response element (IGFRE) and inhibits IGF1-stimulated transcriptional activity. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation (By similarity). Required for the assembly of nuclear speckles (PubMed:25765647). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Paraspeckle-independent co-transcriptional regulation of nuclear microRNA biogenesis by SFPQ., [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": 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": 21, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "P30808;Q5SZ71", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0042803 protein homodimerization activity;GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0030425 dendrite", "go_biological_process": "GO:0098963 dendritic transport of messenger ribonucleoprotein complex;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing", "synthesized_glycan_count": 0, "hit_score": 17.9, "record_id": "P23246-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92614-1", "uniprot_id": [ { "id": "MY18A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92614", "type": "external" } ], "mass": 233115.0, "length": 2054, "protein_name": "Unconventional myosin-XVIIIa", "gene_name": "MYO18A", "organism": "Human", "refseq_name": "unconventional myosin-XVIIIa isoform e", "refseq_ac": [ { "id": "NP_001333696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333696", "type": "external" } ], "gene_names_uniprotkb": "MYO18A; CD245; KIAA0216; MYSPDZ; TIAF1", "gene_names_refseq": "MAJN; MYO18A; MYSPDZ; SP-R210; SPR210; TIAF1", "protein_names_uniprotkb": "Unconventional myosin-XVIIIa; MAJN; Molecule associated with JAK3 N-terminus; Myosin containing a PDZ domain; SP-R210; Surfactant protein receptor SP-R210", "protein_names_refseq": "12 kDa TGF-beta-1-induced antiapoptotic factor; Putative TGFB1-induced anti-apoptotic factor 1; SP-A receptor subunit SP-R210 alphaS; TGF-beta-1-induced antiapoptotic factor 1; TGFB1-induced anti-apoptotic factor 1; molecule associated with JAK3 N-terminus; molecule associated with Jak-3 N-terminal; myosin 18A; myosin containing PDZ domain; myosin containing a PDZ domain; surfactant protein receptor SP-R210; unconventional myosin-XVIIIa isoform e; unconventional myosin-XVIIIa", "tax_id": 9606, "disease": "", "pathway": " (hsa:399687); (R-HSA-1839117); (R-HSA-5655302); (R-HSA-9703465)", "pathway_count": 4, "publication_count": 173, "publication_id_list": "10469654;10480903;10579907;10652257;10688839;10733938;10887137;10918587;10935490;11027663;11157491;11237011;11429702;11689702;11739186;12124177;12393597;12468433;12761286;12829915;14534538;14660670;14965474;15003515;15034873;15050920;15302935;15448205;15491607;15498859;15609342;15800673;15835906;16083285;16087679;16091734;16761019;16844695;16946300;17081983;17268528;17322306;17505008;17533378;17698633;17764812;18088087;18192505;18205209;18220336;18318008;18337450;18373495;18381441;18412956;18452278;18552176;18669648;18757403;18767875;18854160;19103595;19147536;19345670;19369959;19381019;19413330;19438505;19651622;19690332;19749790;19809159;19837035;19874848;19946327;20068231;20094046;20166139;20179196;20226962;20709759;21072051;21123169;21160078;21262971;21330321;21406692;21666749;21705501;21711248;22424782;22438257;23103841;23168613;23186163;23345592;23481700;23990465;24275569;24854988;25418920;25576301;25645385;25880248;25965346;26154972;26308771;26716518;26992070;27397612;27467939;27666490;27795560;27846572;28028030;28751768;28904123;28942352;29025582;29437277;29493099;29507660;29557506;29880609;30315122;30370255;30410026;30484775;30559310;30833945;31020640;31066629;31154438;31359998;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33717175;33912179;33968037;34171305;34185709;34509645;34561969;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;38135024;9425908;9576949;9716603;9857065;9918798;9918857;9949182", "class_list": "", "function": "A high proportion of MYO18A is found in complex with GOLPH3 at the trans Golgi, where it functions to promote vesicle budding for Golgi-to-plasma membrane trafficking. Review article, [RefSeq, PubMed]; Expression of TIAF-1 in the lymphocytes during chronic allograft rejection may be related to the predominance of a Th2 response in this condition and may protect these cells from apoptosis, [RefSeq, PubMed]; Inhibits the cytotoxic effects of TNF and overexpressed TNF receptor adapters TRADD, FADD, and RIPK1. Involved in TGF-beta1 inhibition of IkappaB-alpha expression and suppression of TNF-mediated IkappaB-alpha degradation., [UniProtKB, PubMed]; May link Golgi membranes to the cytoskeleton and participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus (PubMed:19837035, PubMed:23345592). Alternatively, in concert with LURAP1 and CDC42BPA/CDC42BPB, has been involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). May be involved in the maintenance of the stromal cell architectures required for cell to cell contact (By similarity). Regulates trafficking, expression, and activation of innate immune receptors on macrophages. Plays a role to suppress inflammatory responsiveness of macrophages via a mechanism that modulates CD14 trafficking (PubMed:25965346). Acts as a receptor of surfactant-associated protein A (SFTPA1/SP-A) and plays an important role in internalization and clearance of SFTPA1-opsonized S.aureus by alveolar macrophages (PubMed:16087679, PubMed:21123169). Strongly enhances natural killer cell cytotoxicity (PubMed:27467939)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; SP-R210 isoforms of Myosin18A modulate endosomal sorting and recognition of influenza A virus infection in macrophages., [RefSeq, PubMed]; TIAF1 and p53 functionally interact in regulating apoptosis, and TIAF1 is likely to participate in the nuclear translocation of activated p53., [RefSeq, PubMed]; The protein encoded by this gene can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration. [provided by RefSeq, Oct 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": 46, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 30, "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": "Q5H9U3;Q5QD01;Q5W9F9;Q5W9G1;Q8IXP8", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0051015 actin filament binding;GO:0043531 ADP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0007249 canonical NF-kappaB signal transduction;GO:0090164 asymmetric Golgi ribbon formation;GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "Q92614-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75348-1", "uniprot_id": [ { "id": "VATG1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75348", "type": "external" } ], "mass": 13758.0, "length": 118, "protein_name": "V-type proton ATPase subunit G 1", "gene_name": "ATP6V1G1", "organism": "Human", "refseq_name": "V-type proton ATPase subunit G 1", "refseq_ac": [ { "id": "NP_004879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004879", "type": "external" } ], "gene_names_uniprotkb": "ATP6V1G1; ATP6G1; ATP6G; ATP6J", "gene_names_refseq": "ATP6G1; ATP6GL; ATP6G; ATP6J; ATP6V1G1; Vma10", "protein_names_uniprotkb": "V-type proton ATPase subunit G 1; V-ATPase 13 kDa subunit 1; V-ATPase subunit G 1; Vacuolar proton pump subunit G 1; Vacuolar proton pump subunit M16", "protein_names_refseq": "ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J; ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1; V-ATPase 13 kDa subunit 1; V-ATPase subunit G 1; V-type proton ATPase subunit G 1; vacuolar ATP synthase subunit M16; vacuolar H(+)-ATPase subunit G 1; vacuolar proton pump subunit G 1; vacuolar proton pump subunit M16", "tax_id": 9606, "disease": "", "pathway": " (hsa:9550); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712); (R-HSA-9857377)", "pathway_count": 7, "publication_count": 142, "publication_id_list": "10029572;10409623;10802645;11237011;11237855;11779865;11800564;11970843;12384298;12531241;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16793765;17051221;17145369;17470430;17662945;17729390;18406720;18497260;18604198;18794901;19089323;19321446;20134026;20381137;21081667;21124855;22053050;22087256;22575674;22980980;23301498;23401004;23719902;23723238;23739916;24081491;24095279;24715725;25259925;25263562;25418920;25457612;25561175;25567906;25576301;25819761;26205815;26449471;26586190;26972053;26992070;27308486;27487210;27648300;27920218;28066558;28199306;28199315;28228285;2825632;28296633;28467828;2848506;28514659;28832583;28834231;29053970;29056322;29123071;29236692;29242379;29393594;29493099;29557506;29596046;29632046;29632711;2986535;29993276;30061680;30181260;30254208;30315122;30337524;30429286;30484775;3061785;30651352;30779550;30833945;31154438;31530632;31611695;31844290;31848261;32001091;32157095;32161166;32350084;32387766;32502341;32938616;32983136;33065002;33141586;33392160;33592498;33633298;33936100;33968037;33981976;34019948;34171305;34561969;35051231;35251023;35580925;36241641;36284347;38665916;38702933;6141558;6309857;7499430;7929063;7980580;8300632;8537108;8682206;8995282;9465039;9609117;9653160;9793760", "class_list": "", "function": "Plasma exosomes impair microglial degradation of alpha-synuclein through V-ATPase subunit V1G1., [RefSeq, PubMed]; Role of the V1G1 subunit of V-ATPase in breast cancer cell migration. Publication Status: Online-Only, [RefSeq, PubMed]; Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "Q6IB33", "ec_number_list": [], "go_molecular_function": "GO:0051117 ATPase binding;GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0098850 extrinsic component of synaptic vesicle membrane;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0016241 regulation of macroautophagy;GO:0036295 cellular response to increased oxygen levels;GO:0097401 synaptic vesicle lumen acidification", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "O75348-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5M4-1", "uniprot_id": [ { "id": "TTC9C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5M4", "type": "external" } ], "mass": 20013.0, "length": 171, "protein_name": "Tetratricopeptide repeat protein 9C", "gene_name": "TTC9C", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 9C isoform a", "refseq_ac": [ { "id": "NP_001305741", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305741", "type": "external" } ], "gene_names_uniprotkb": "TTC9C", "gene_names_refseq": "TTC9C", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 9C; TPR repeat protein 9C", "protein_names_refseq": "TPR repeat protein 9C; tetratricopeptide repeat protein 9C isoform a; tetratricopeptide repeat protein 9C", "tax_id": 9606, "disease": "", "pathway": " (hsa:283237)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;19165527;23481700;24715725;25645385;26375851;26992070;27600516;27846572;27920218;28510447;28832583;29242379;29393594;29557506;29632046;29786170;30429286;30779550;31154438;31844290;31848261;31998317;32157095;32265295;32350084;32387766;32938616;32983136;33717175;33912179;33968037;34561969;35251023;35318648;35580925;36284347", "class_list": "", "function": "Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q8WYY7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q8N5M4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75879-1", "uniprot_id": [ { "id": "GATB_HUMAN", "url": "https://www.uniprot.org/uniprot/O75879", "type": "external" } ], "mass": 61864.0, "length": 557, "protein_name": "Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial", "gene_name": "GATB", "organism": "Human", "refseq_name": "glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_004555", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004555", "type": "external" } ], "gene_names_uniprotkb": "GATB; HSPC199; PET112L; PET112", "gene_names_refseq": "COXPD41; GATB; HSPC199; PET112L; PET112", "protein_names_uniprotkb": "Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial; 6.3.5.-; Cytochrome c oxidase assembly factor PET112 homolog; Glu-AdT subunit B", "protein_names_refseq": "cytochrome c oxidase assembly factor PET112 homolog; cytochrome oxidase assembly factor PET112 homolog; glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial isoform 1 precursor; glutamyl-tRNA(Gln) amidotransferase, subunit B", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); combined oxidative phosphorylation deficiency 41 (Disease Ontology:DOID:0112119)", "pathway": " (hsa:5188)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;19805282;20068231;20877624;23481700;25576301;25892735;27920218;28514659;29557506;29769354;29789417;30283131;30315122;30410026;31154438;31844290;32157095;32350084;32387766;32897882;32938616;32983136;33592498;33912179;33968037;34357683;35051231;9878253", "class_list": "", "function": "Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln)., [UniProtKB, PubMed, HAMAP, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4W5M8;Q53GP4;Q9P0S6;Q9Y2B8", "ec_number_list": [ { "id": "6.3.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.5.-", "type": "external" }, { "id": "6.3.5.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.5.7", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0050567 glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity;GO:0050566 asparaginyl-tRNA synthase (glutamine-hydrolyzing) activity;GO:0016884 carbon-nitrogen ligase activity, with glutamine as amido-N-donor", "go_cellular_component": "GO:0005739 mitochondrion;GO:0030956 glutamyl-tRNA(Gln) amidotransferase complex", "go_biological_process": "GO:0032543 mitochondrial translation;GO:0070681 glutaminyl-tRNAGln biosynthesis via transamidation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "O75879-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28676-1", "uniprot_id": [ { "id": "GRAN_HUMAN", "url": "https://www.uniprot.org/uniprot/P28676", "type": "external" } ], "mass": 24010.0, "length": 217, "protein_name": "Grancalcin", "gene_name": "GCA", "organism": "Human", "refseq_name": "grancalcin isoform b", "refseq_ac": [ { "id": "NP_036330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036330", "type": "external" } ], "gene_names_uniprotkb": "GCA; GCL", "gene_names_refseq": "GCA; GCL", "protein_names_uniprotkb": "Grancalcin", "protein_names_refseq": "grancalcin isoform b; grancalcin, EF-hand calcium-binding protein; grancalcin, penta-EF-hand protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:25801); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10903868;11237011;11279160;11717497;12804766;1530588;1737748;23650620;24715725;25576301;25880248;29371260;29557506;30779550;30929559;31154438;31844290;31848261;32157095;32350084;32357974;32938616;32983136;33912179;33968037;34087483;35051231;35318648;35580925;36284347;37938771;8692836", "class_list": "", "function": "Calcium-binding protein that may play a role in the adhesion of neutrophils to fibronectin. May play a role in the formation of focal adhesions., [UniProtKB]; GCA activates TRAF6 ubiquitin ligase activity to induce Lys63 ubiquitination of ULK1, a crucial regulator of autophagy, resulting in its stabilization and activation. It was also highlighted the role of GCA-TRAF6-ULK1 autophagy regulatory axis in imatinib resistance., [RefSeq, PubMed]; This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "B2R5X3;Q53TB5;Q59EP3", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0005509 calcium ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0061025 membrane fusion", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "P28676-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60866-1", "uniprot_id": [ { "id": "RS20_HUMAN", "url": "https://www.uniprot.org/uniprot/P60866", "type": "external" } ], "mass": 13373.0, "length": 119, "protein_name": "Small ribosomal subunit protein uS10", "gene_name": "RPS20", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS10 isoform 2", "refseq_ac": [ { "id": "NP_001014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014", "type": "external" } ], "gene_names_uniprotkb": "RPS20", "gene_names_refseq": "RPS20; S20; uS10", "protein_names_uniprotkb": "Small ribosomal subunit protein uS10; 40S ribosomal protein S20", "protein_names_refseq": "40S ribosomal protein S20; small ribosomal subunit protein uS10 isoform 2; small ribosomal subunit protein uS10", "tax_id": 9606, "disease": "Diamond-Blackfan anemia (Disease Ontology:DOID:1339)", "pathway": " (hsa:6224); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 257, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17142313;17189298;17267404;17287340;17322306;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18767875;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21740066;22072790;22174690;22190735;22195017;22855488;22916032;23035226;23085078;23186163;23217742;23234702;23269699;23301498;23439679;23482395;23636399;23746841;2388630;24424021;24524803;24550520;25132172;25242263;25418920;25432065;25502872;25525153;25969445;26237581;26758079;26768311;26811146;27090790;27526673;27600516;27920218;28063628;28065601;28132843;28218747;28685749;28832583;29242379;29314611;29393594;29413899;29493099;29557506;29632046;30192525;30293783;30315122;30444036;30626607;30804176;30833945;31154438;31217245;31222486;31844290;32011234;32099016;32350084;32387766;32579943;32680882;32790018;32908316;32983136;32995776;32995777;33080218;33091337;33188728;33214551;33268501;33479166;33592498;33968037;34019948;34171305;34315815;34357683;34373319;34624207;34932366;35083852;35138101;35154160;35580925;36241641;36284347;36302773;36484407;36610391;37217939;37326506;38290548;38665916;39395807;40930100;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8479924;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9582194;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Biochemical and clinical effects of RPS20 expression in renal clear cell carcinoma., [RefSeq, PubMed]; Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399)., [UniProtKB, PubMed]; Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Deficiency of the ribosomal protein uS10 (RPS20) reorganizes human cells translatome according to the abundance, CDS length and GC content of mRNAs., [RefSeq, PubMed]; Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia., [RefSeq, PubMed]; Prospective study: expression levels of microRNA-7-3p and its target STAT3 in head and neck cancer., [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 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": "B2R4F4;B4DW28;P17075;Q5M8S9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0097371 MDM2/MDM4 family protein binding;GO:1990948 ubiquitin ligase inhibitor activity;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006412 translation;GO:1901798 positive regulation of signal transduction by p53 class mediator;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 26.0, "record_id": "P60866-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULL4-1", "uniprot_id": [ { "id": "PLXB3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULL4", "type": "external" } ], "mass": 206847.0, "length": 1909, "protein_name": "Plexin-B3", "gene_name": "PLXNB3", "organism": "Human", "refseq_name": "plexin-B3 isoform 2", "refseq_ac": [ { "id": "NP_001156729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156729", "type": "external" } ], "gene_names_uniprotkb": "PLXNB3; KIAA1206; PLXN6", "gene_names_refseq": "PLEXB3; PLEXR; PLXN6; PLXNB3", "protein_names_uniprotkb": "Plexin-B3", "protein_names_refseq": "plexin 6; plexin-B3 isoform 2", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5365); (R-HSA-416700)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10.1101/2023.09.13.557529;10520995;10648410;11114375;11237011;12882840;15184888;15218527;15550623;16122393;16715077;17318185;18507432;20696765;21706053;25548167;25645385;26154972;28119487;28832583;29557506;29741879;30001391;31154438;31844290;32157095;32161166;32387766;32502341;32938616;33592498;33968037;34267322;35051231;35981243;36010968;36741230;36857181;39531497;8955171", "class_list": "", "function": "Essential roles of plexin-B3(+) oligodendrocyte precursor cells in the pathogenesis of Alzheimer's disease. Erratum:[Commun Biol. 2021 Dec 2;4(1):1372. doi: 10.1038/s42003-021-02905-5. PMID: 34857866] Publication Status: Online-Only, [RefSeq, PubMed]; Glycoproteomics Identifies Plexin-B3 as a Targetable Cell Surface Protein Required for the Growth and Invasion of Triple-Negative Breast Cancer Cells., [RefSeq, PubMed]; Plexin-B3 expression stimulates MET signaling, breast cancer stem cell specification, and lung metastasis., [RefSeq, PubMed]; Plexin-B3 is a functional receptor for semaphorin 5A, [RefSeq, PubMed]; Receptor for SEMA5A that plays a role in axon guidance, invasive growth and cell migration. Stimulates neurite outgrowth and mediates Ca(2+)/Mg(2+)-dependent cell aggregation. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA-mediated inactivation of RAC1., [UniProtKB, PubMed, PubMed, PubMed]; SEMA5A-PLXNB3 Axis Promotes PDAC Liver Metastasis Outgrowth through Enhancing the Warburg Effect. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the plexin family. It functions as a receptor for semaphorin 5A, and plays a role in axon guidance, invasive growth and cell migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 7, "predicted_n_glycosites": 6, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B7Z3E6;F5H773;Q9HDA4", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0017154 semaphorin receptor activity;GO:0098632 cell-cell adhesion mediator activity;GO:0051022 Rho GDP-dissociation inhibitor binding", "go_cellular_component": "GO:0002116 semaphorin receptor complex;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007162 negative regulation of cell adhesion;GO:0010976 positive regulation of neuron projection development;GO:0071526 semaphorin-plexin signaling pathway;GO:0030336 negative regulation of cell migration;GO:0007416 synapse assembly", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9ULL4-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11488-1", "uniprot_id": [ { "id": "GNAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P11488", "type": "external" } ], "mass": 40041.0, "length": 350, "protein_name": "Guanine nucleotide-binding protein G(t) subunit alpha-1", "gene_name": "GNAT1", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(t) subunit alpha-1", "refseq_ac": [ { "id": "NP_000163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000163", "type": "external" } ], "gene_names_uniprotkb": "GNAT1; GNATR", "gene_names_refseq": "CSNB1G; CSNBAD3; GBT1; GNAT1; GNATR; HG1F", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(t) subunit alpha-1; 3.6.5.-; Transducin alpha-1 chain", "protein_names_refseq": "guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1; guanine nucleotide-binding protein G(T), alpha-1 subunit; guanine nucleotide-binding protein G(t) subunit alpha-1; heterotrimeric guanine nucleotide-binding protein 1F; rod-type transducin alpha subunit; transducin alpha-1 chain; transducin, rod-specific", "tax_id": 9606, "disease": "congenital stationary night blindness 1G (Disease Ontology:DOID:0110714); congenital stationary night blindness autosomal dominant 3 (Disease Ontology:DOID:0110715); McCune Albright syndrome (Disease Ontology:DOID:1858); night blindness (Disease Ontology:DOID:8499)", "pathway": " (hsa:2779); (R-HSA-2485179); (R-HSA-2514859); (R-HSA-418594)", "pathway_count": 4, "publication_count": 110, "publication_id_list": "10037746;10051575;10564809;10676965;11007482;11032890;11237011;11292825;11601986;11687658;11713293;11754336;12036349;12119397;12120503;12432397;12467591;12467592;12499365;12825937;1356371;1379636;1387789;1436039;14702087;15946941;15951850;1614872;16274222;16460277;16634148;16895762;16908407;16923326;17114291;1720239;1722240;17584859;17636946;18434541;18577758;18803695;19818506;1999465;20430952;20850105;20975703;2155175;2161380;21642972;22190596;22658984;23292452;2422346;2457685;2467600;2473195;2534964;2540796;2550422;2558719;2578616;26472407;26992070;2748346;2834384;2835761;2837463;30051303;3006923;3095147;31583501;3164688;31696758;33968037;35051231;35251023;36241641;3933561;4359491;4361997;4366891;4772407;6264430;6930647;7525588;7526403;7644482;7670478;7678445;7682292;7777544;7937899;7983048;8015379;8382952;8406495;8494894;8500562;8626439;8673138;8706659;8812493;8913594;9119368;9353336;9430683;9459445;9478004;9506952", "class_list": "", "function": "Alpha subunit of the heterotrimeric guanine nucleotide-binding protein (G protein) that transduces signals from the G protein-coupled photoreceptor rhodopsin (RHO). Required for normal RHO-mediated light perception in retinal rod photoreceptors (PubMed:22190596). Functions as a GTPase that contains the guanine nucleotide binding site and cycles between an active GTP-bound state and an inactive GDP-bound state. Under dim light conditions, RHO promotes GDP release and GTP binding. Activates downstream effectors, including cone cGMP-phosphodiesterase (PDE6), to mediate the phototransduction cascade (By similarity). Stimulates PDE6 by binding and repositioning the PDE6 gamma inhibitory subunits (PDE6G) to promote catalytic activity (By similarity)., [UniProtKB, PubMed, UniProtKB]; Homozygous in-frame deletion of GNAT1 gene is associated with Stationary night blindness, Oguchi type., [RefSeq, PubMed]; Our family's ERG showed essentially no rod response, consistent with a Danish GNAT1 pedigree but different from the Nougaret GNAT1 pedigree that shows partial preservation of rod signal. A genetic connection between Complete congenital stationary night blindness and postural orthostatic tachycardia syndrome would be intriguing, but we found no evidence for this., [RefSeq, PubMed]; These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously., [RefSeq, PubMed]; This is the second report of a Nougaret-type congenital stationary night blindness (CSNB) family with the GNAT1 variant. Our novel findings suggest that coexistence of the GNAT1 and biallelic ABCA4 variants is associated with an overlapping phenotype with both Nougaret-type CSNB and cone-rod dystrophy., [RefSeq, PubMed]; Three candidate tumor-suppressor genes, SEMA3B, AXUD1 and GNAT1 may be involved in oral squamous cell carcinoma., [RefSeq, PubMed]; Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4VBN2", "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": "2.3.1.97", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.97", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.4.11.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.18", "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:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043025 neuronal cell body", "go_biological_process": "GO:0007165 signal transduction;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway;GO:0007601 visual perception;GO:0007603 phototransduction, visible light;GO:0051344 negative regulation of cyclic-nucleotide phosphodiesterase activity", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "P11488-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15029-1", "uniprot_id": [ { "id": "U5S1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15029", "type": "external" } ], "mass": 109436.0, "length": 972, "protein_name": "116 kDa U5 small nuclear ribonucleoprotein component", "gene_name": "EFTUD2", "organism": "Human", "refseq_name": "116 kDa U5 small nuclear ribonucleoprotein component isoform b", "refseq_ac": [ { "id": "NP_001136077", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136077", "type": "external" } ], "gene_names_uniprotkb": "EFTUD2; KIAA0031; SNRP116", "gene_names_refseq": "EFTUD2; MFDGA; MFDM; SNRNP116; Snrp116; Snu114; U5-116KD", "protein_names_uniprotkb": "116 kDa U5 small nuclear ribonucleoprotein component; Elongation factor Tu GTP-binding domain-containing protein 2; SNU114 homolog; U5 snRNP-specific protein, 116 kDa; U5-116 kDa; hSNU114", "protein_names_refseq": "116 kDa U5 small nuclear ribonucleoprotein component isoform b; 116 kDa U5 small nuclear ribonucleoprotein component; SNU114 homolog; U5 snRNP-specific protein, 116 kDa; elongation factor Tu GTP-binding domain-containing protein 2; hSNU114", "tax_id": 9606, "disease": "mandibulofacial dysostosis, Guion-Almeida type (Disease Ontology:DOID:0080196); esophageal atresia (Disease Ontology:DOID:10485); microcephaly (Disease Ontology:DOID:10907); hepatitis B (Disease Ontology:DOID:2043); Treacher Collins syndrome (Disease Ontology:DOID:2908); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:9343); (R-HSA-72163); (R-HSA-72165); (R-HSA-9918481)", "pathway_count": 4, "publication_count": 223, "publication_id_list": "10.1101/2023.09.13.557529;10207048;10882114;11014198;11101529;11233976;11237011;11333026;11607023;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14762106;15084397;15302935;16314458;16723661;16809785;17081983;17095540;17332742;17525332;17606899;17940139;18077418;18322460;18452278;18593880;18991276;19052544;19103666;19165350;19413330;19536130;19651622;20058876;20068231;20423332;20858735;20980672;21406692;21536652;2176635;21911577;22110043;22121020;22223895;22305528;22365833;22424782;22959432;22961380;22967762;23222130;23236153;23301498;23345524;23481700;24196718;24275569;24304693;24366607;24448447;24656813;24714562;24715725;24737827;24914973;25092792;25114211;2524422;25418920;25555158;25576301;2558966;25645385;25810538;25880248;26092250;26154972;26375851;26385511;26420826;26728094;26811146;26912367;26969736;26992070;27108190;27377154;27459055;27510544;27543614;27600516;27683217;27846572;27862975;27920218;28062851;28076346;28218747;28228285;28502770;28510447;28514659;28561026;28649982;28781166;28832583;28834231;28855257;28904123;29242379;29301961;29331515;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29902443;30315122;30315277;30410026;30429286;30484775;30538148;30599162;30705154;30728453;30765414;30975767;31020640;31217245;31409651;31844290;32119511;32157095;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32522876;32703943;32897882;32938616;32983136;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33465208;33509932;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34301950;34357683;34509645;34561969;34725712;34822310;34932366;35051231;35083852;35154160;35215846;35318648;35385551;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;3757028;37938771;38665916;40596516;40914422;8566756;8608946;8835860;9016565;9233818;9242493;9512519;9524131;9539711;9671485;9701291;9731529;9774689", "class_list": "", "function": "Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (PubMed:25092792, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30315277, PubMed:30705154). Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:16723661). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DK30;B4DMC0;D3DX58;K7EJ81;Q9BUR0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0030623 U5 snRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0016607 nuclear speck", "go_biological_process": "GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0071466 cellular response to xenobiotic stimulus;GO:0042220 response to cocaine;GO:0048025 negative regulation of mRNA splicing, via spliceosome;GO:0000387 spliceosomal snRNP assembly", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "Q15029-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NFK2-1", "uniprot_id": [ { "id": "GRCR2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NFK2", "type": "external" } ], "mass": 28284.0, "length": 248, "protein_name": "Glutaredoxin domain-containing cysteine-rich protein 2", "gene_name": "GRXCR2", "organism": "Human", "refseq_name": "glutaredoxin domain-containing cysteine-rich protein 2", "refseq_ac": [ { "id": "NP_001073985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073985", "type": "external" } ], "gene_names_uniprotkb": "GRXCR2", "gene_names_refseq": "DFNB101; GRXCR2", "protein_names_uniprotkb": "Glutaredoxin domain-containing cysteine-rich protein 2; GRXCR1-like protein; Glutaredoxin domain-containing cysteine-rich protein 1-like protein", "protein_names_refseq": "GRXCR1-like protein; glutaredoxin domain-containing cysteine-rich protein 1-like protein; glutaredoxin domain-containing cysteine-rich protein 2; glutaredoxin, cysteine rich 2", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 101 (Disease Ontology:DOID:0110462)", "pathway": " (hsa:643226); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 9, "publication_id_list": "10025409;10821263;11163272;11237011;24619944;24715725;29242379;30157177;33528103", "class_list": "", "function": "GRXCR2 plays an intrinsic role in bundle orientation, organization, and sensory function in the inner ear during development and at maturity Publication Status: Online-Only, [RefSeq, PubMed]; Required for hearing (By similarity). Plays a role in maintaining cochlear stereocilia bundles that are involved in sound detection (PubMed:24619944). Ensures the restriction of TPRN to the basal region of stereocilia in hair cells (By similarity)., [UniProtKB, PubMed, UniProtKB]; This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic sensorineural deafness-101. [provided by RefSeq, Jun 2014]., [RefSeq]; Ur results indicate that GRXCR2 should be considered in differential genetic diagnosis for individuals with early onset, moderate-to-severe and progressive hearing loss., [RefSeq, PubMed]; Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005902 microvillus;GO:0120043 stereocilium shaft;GO:0120044 stereocilium base", "go_biological_process": "GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A6NFK2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D2P6-1", "uniprot_id": [ { "id": "GRD2I_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D2P6", "type": "external" } ], "mass": 132276.0, "length": 1211, "protein_name": "Delphilin", "gene_name": "GRID2IP", "organism": "Human", "refseq_name": "delphilin isoform 1", "refseq_ac": [ { "id": "NP_001138590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138590", "type": "external" } ], "gene_names_uniprotkb": "GRID2IP", "gene_names_refseq": "DELPHILIN; GRID2IP", "protein_names_uniprotkb": "Delphilin; Glutamate receptor, ionotropic, delta 2-interacting protein 1", "protein_names_refseq": "delphilin isoform 1; glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1; glutamate receptor, ionotropic, delta 2-interacting protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:392862)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;14612983;16835239;17027646;24715725;25645385;28514659;29242379;29282276;30524438;32350084;32357974;32488085;32502341;35051231;37964339", "class_list": "", "function": "Delphilin is an actin nucleator that does not accelerate elongation. Delphilin exhibits a preference for actin isoforms, nucleating nonmuscle actin but not muscle actin., [RefSeq, PubMed]; Delphilin isoforms with differential palmitoylation and clustering capabilities may provide two separate intracellular and surface GluRdelta2 pools and may control GluRdelta2 signaling in Purkinje cells, [RefSeq, PubMed]; Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008]., [RefSeq]; Grid2 interacting protein is a potential biomarker related to immune infiltration in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Postsynaptic scaffolding protein at the parallel fiber-Purkinje cell synapse, where it may serve to link GRID2 with actin cytoskeleton and various signaling molecules., [UniProtKB]; Thus, phosphorylation of -2T and/or -1S of GluRdelta2 C-terminus by PKA may regulate the binding of GluRdelta2 to its scaffolding protein, Delphilin., [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": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0045211 postsynaptic membrane;GO:0099092 postsynaptic density, intracellular component;GO:0098688 parallel fiber to Purkinje cell synapse;GO:0150048 cerebellar granule cell to Purkinje cell synapse", "go_biological_process": "GO:0099072 regulation of postsynaptic membrane neurotransmitter receptor levels;GO:0099566 regulation of postsynaptic cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "A4D2P6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NK44-1", "uniprot_id": [ { "id": "GLOD5_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NK44", "type": "external" } ], "mass": 18322.0, "length": 160, "protein_name": "Glyoxalase domain-containing protein 5", "gene_name": "GLOD5", "organism": "Human", "refseq_name": "glyoxalase domain-containing protein 5", "refseq_ac": [ { "id": "NP_001073958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073958", "type": "external" } ], "gene_names_uniprotkb": "GLOD5", "gene_names_refseq": "GLOD5", "protein_names_uniprotkb": "Glyoxalase domain-containing protein 5", "protein_names_refseq": "glyoxalase domain-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:392465)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;29242379;30379171", "class_list": "", "function": "This gene encodes a protein with a glyoxalase domain. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NK44-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15386-1", "uniprot_id": [ { "id": "UBE3C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15386", "type": "external" } ], "mass": 123923.0, "length": 1083, "protein_name": "Ubiquitin-protein ligase E3C", "gene_name": "UBE3C", "organism": "Human", "refseq_name": "ubiquitin-protein ligase E3C", "refseq_ac": [ { "id": "NP_055486", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055486", "type": "external" } ], "gene_names_uniprotkb": "UBE3C; KIAA0010; KIAA10", "gene_names_refseq": "HECTH2; NDSMBA; NEDSMBA; RAUL; UBE3C", "protein_names_uniprotkb": "Ubiquitin-protein ligase E3C; 2.3.2.26; HECT-type ubiquitin transferase E3C; HectH2; Homologous to E6AP carboxyl terminus homologous protein 2; RAUL; RTA-associated ubiquitin ligase", "protein_names_refseq": "HECT-type ubiquitin transferase E3C; RTA-associated ubiquitin ligase; homologous to E6AP carboxyl terminus homologous protein 2; ubiquitin-protein isopeptide ligase (E3); ubiquitin-protein ligase E3C", "tax_id": 9606, "disease": "neurodevelopmental disorder with absent speech and movement and behavioral abnormalities (MONDO:MONDO:0859519)", "pathway": " (hsa:9690); (R-HSA-983168)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "11062501;11237011;11278995;11350924;12646216;12692129;14734113;15224091;15224092;15571818;16341092;16595681;16601690;16849449;16954532;17323924;18662542;19028597;19352404;19452197;19489725;19846067;19851334;19874575;19940261;21167755;2261476;23481700;23783831;24158444;24715725;24811749;25418920;25505266;25576301;25752573;25752577;25892735;26811146;26992070;27397612;27600516;27846572;27920218;28063628;28218747;28228285;28396413;28446606;28510447;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30429286;30484775;30779550;31092671;31217245;31375563;31844290;32039437;32157095;32350084;32357974;32387766;32488085;32502341;32938616;33091337;33141586;33298915;33592498;33637724;33717175;33912179;33936100;33968037;34087483;34171305;34185709;34239127;34509645;34561969;34932366;35051231;35318648;35580925;35840930;35914132;36010968;36215666;36241641;36284347;36380488;36401616;37938771;39212385;9380723;9575161;9668046", "class_list": "", "function": "Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome., [RefSeq, PubMed]; Circular RNA circPOLR2A promotes clear cell renal cell carcinoma progression by facilitating the UBE3C-induced ubiquitination of PEBP1 and, thereby, activating the ERK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that specifically catalyzes 'Lys-29'- and 'Lys-48'-linked polyubiquitin chains (PubMed:11278995, PubMed:12692129, PubMed:16341092, PubMed:16601690, PubMed:24158444, PubMed:24811749, PubMed:25752573, PubMed:25752577, PubMed:32039437, PubMed:33637724, PubMed:34239127). Accepts ubiquitin from the E2 ubiquitin-conjugating enzyme UBE2D1 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:32039437, PubMed:9575161). Associates with the proteasome and promotes elongation of ubiquitin chains on substrates bound to the 26S proteasome (PubMed:24158444, PubMed:28396413, PubMed:31375563). Also catalyzes 'Lys-29'- and 'Lys-48'-linked ubiquitination of 26S proteasome subunit ADRM1/RPN13 in response to proteotoxic stress, impairing the ability of the proteasome to bind and degrade ubiquitin-conjugated proteins (PubMed:24811749, PubMed:31375563). Acts as a negative regulator of autophagy by mediating 'Lys-29'- and 'Lys-48'-linked ubiquitination of PIK3C3/VPS34, promoting its degradation (PubMed:33637724). Can assemble unanchored poly-ubiquitin chains in either 'Lys-29'- or 'Lys-48'-linked polyubiquitin chains; with some preference for 'Lys-48' linkages (PubMed:11278995, PubMed:16601690, PubMed:25752577). Acts as a negative regulator of type I interferon by mediating 'Lys-48'-linked ubiquitination of IRF3 and IRF7, leading to their degradation by the proteasome (PubMed:21167755). Catalyzes ubiquitination and degradation of CAND2 (PubMed:12692129)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; TIP120B is a specific substrate of KIAA10; both are highly expressed in human skeletal muscle, suggesting that KIAA10 may regulate TIP120B homeostasis specifically in this tissue., [RefSeq, PubMed]; UBE3C restricts EV-A71 replication by ubiquitination-dependent degradation of 2C., [RefSeq, PubMed]; VPS34 K29/K48 branched ubiquitination governed by UBE3C and TRABID regulates autophagy, proteostasis and liver metabolism. 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": 6, "reported_glycation": 0, "reported_snv": 24, "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": "A4D235;A6NCP3;Q8TC15;Q96CR4;Q9UDU3", "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:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0000502 proteasome complex", "go_biological_process": "GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0070936 protein K48-linked ubiquitination;GO:0035519 protein K29-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q15386-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UL3-1", "uniprot_id": [ { "id": "GPAT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UL3", "type": "external" } ], "mass": 52071.0, "length": 456, "protein_name": "Glycerol-3-phosphate acyltransferase 4", "gene_name": "GPAT4", "organism": "Human", "refseq_name": "glycerol-3-phosphate acyltransferase 4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_848934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848934", "type": "external" } ], "gene_names_uniprotkb": "GPAT4; AGPAT6; PRO1108; TSARG7", "gene_names_refseq": "1-AGPAT 6; AGPAT6; GPAT4; LPAAT-zeta; LPAATZ; TSARG7", "protein_names_uniprotkb": "Glycerol-3-phosphate acyltransferase 4; 1-AGP acyltransferase 6; 1-AGPAT 6; 1-acylglycerol-3-phosphate O-acyltransferase 6; 2.3.1.15; Acyl-CoA:glycerol-3-phosphate acyltransferase 4; LPAAT-zeta; Lysophosphatidic acid acyltransferase zeta; TSARG7; Testis spermatogenesis apoptosis-related protein 7", "protein_names_refseq": "1-AGP acyltransferase 6; 1-acyl-sn-glycerol-3-phosphate acyltransferase zeta; 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta); glycerol-3-phosphate acyltransferase 4 isoform 1 precursor; glycerol-3-phosphate acyltransferase 6; lysophosphatidic acid acyltransferase zeta; testis spermatogenesis apoptosis-related protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:137964); (R-HSA-1483166)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10455175;10506173;10553003;10681567;11031251;11112443;11237011;11788596;11830583;12063250;12161451;12359733;12522102;12938015;12963729;12975309;14573790;15367102;16460752;16495223;16620771;16625827;16704971;16864775;17028579;17170135;17707131;17924679;18238778;18718904;19336658;19666841;20705608;21173190;22777291;22922100;23176821;23176823;23481700;23807634;24715725;24966474;25576301;25645385;25892735;26154972;26711011;26992070;28218747;28228285;28832583;28834231;28904123;29242379;2925608;29351928;29437277;29493099;29557506;29632711;30315122;30429286;30846317;30846318;31844290;32157095;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33392160;33633747;33912179;33936100;33968037;34171305;34185709;34211107;34509645;3458202;35051231;35318648;35580925;36010968;36284347;37938771;7060561;7821823;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9461603;9582313", "class_list": "", "function": "AGPAT6 is a microsomal GPAT, and we propose renaming this enzyme GPAT4., [RefSeq, PubMed]; Converts glycerol-3-phosphate to 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) by incorporating an acyl moiety at the sn-1 position of the glycerol backbone (PubMed:18238778). Active against both saturated and unsaturated long-chain fatty acyl-CoAs (PubMed:18238778). Protects cells against lipotoxicity (PubMed:30846318)., [UniProtKB, PubMed, PubMed]; GPAT4 activity requires CHP1 to be N-myristoylated, forming a key molecular interface between the two proteins, regulating glycerolipid metabolism., [RefSeq, PubMed]; Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004]., [RefSeq]; We have cloned a novel human gene and this gene may play an important role in human spermatogenesis and sexual maturation., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 13, "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": "Q2TU73;Q86V89", "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" } ], "go_molecular_function": "GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity;GO:0004366 glycerol-3-phosphate O-acyltransferase activity;GO:0016746 acyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006637 acyl-CoA metabolic process;GO:0006654 phosphatidic acid biosynthetic process;GO:0008610 lipid biosynthetic process;GO:0006656 phosphatidylcholine biosynthetic process;GO:0007595 lactation", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q86UL3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IQ9-1", "uniprot_id": [ { "id": "ZN414_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IQ9", "type": "external" } ], "mass": 32782.0, "length": 312, "protein_name": "Zinc finger protein 414", "gene_name": "ZNF414", "organism": "Human", "refseq_name": "zinc finger protein 414 isoform 1", "refseq_ac": [ { "id": "NP_001139647", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139647", "type": "external" } ], "gene_names_uniprotkb": "ZNF414", "gene_names_refseq": "ZFP414; ZNF414", "protein_names_uniprotkb": "Zinc finger protein 414", "protein_names_refseq": "zinc finger protein 414 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84330)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;27664836;28832583;28834231;29242379;29485866;32938616;33298915;33968037;36241641;39534244;40307207", "class_list": "", "function": "KPNA7 binding and nuclear transfer was validated for two proteins, MVP and ZNF414. MVP and ZNF414 have a key role in the regulation of pancreatic cancer cell growth., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MY94", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q96IQ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14602-1", "uniprot_id": [ { "id": "IF1AY_HUMAN", "url": "https://www.uniprot.org/uniprot/O14602", "type": "external" } ], "mass": 16442.0, "length": 144, "protein_name": "Eukaryotic translation initiation factor 1A, Y-chromosomal", "gene_name": "EIF1AY", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 1A, Y-chromosomal isoform 2", "refseq_ac": [ { "id": "NP_001265541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265541", "type": "external" } ], "gene_names_uniprotkb": "EIF1AY", "gene_names_refseq": "EIF1AY; eIF-4C", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 1A, Y-chromosomal; Eukaryotic translation initiation factor 4C; eIF-1A Y isoform; eIF-4C; eIF1A Y isoform", "protein_names_refseq": "eIF1A Y isoform; eukaryotic translation initiation factor 1A, Y chromosome; eukaryotic translation initiation factor 1A, Y-chromosomal isoform 2; eukaryotic translation initiation factor 1A, Y-chromosomal; eukaryotic translation initiation factor 4C", "tax_id": 9606, "disease": "hypothyroidism (Disease Ontology:DOID:1459); prostate adenocarcinoma (Disease Ontology:DOID:2526); uveal melanoma (Disease Ontology:DOID:6039)", "pathway": " (hsa:9086)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;23481700;24319994;24366607;24715725;25576301;25810538;25892735;26375851;27846572;27920218;28228285;28514659;28649982;28832583;28834231;29242379;29331515;29493099;29508533;29557506;29769354;30315122;30429286;31154438;31217245;31530632;31844290;31848261;32157095;32350084;32488085;32897882;32938616;32983136;33691108;33968037;33981976;34357683;34932366;35051231;35251023;35318648;35561310;35580925;36241641;37938771;38665916;9381176", "class_list": "", "function": "Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5'-untranslated region, and locates the initiation codon. This protein enhances formation of the cap-proximal complex. Together with EIF1, facilitates scanning, start codon recognition, promotion of the assembly of 48S complex at the initiation codon (43S PIC becomes 48S PIC after the start codon is reached), and dissociation of aberrant complexes. After start codon location, together with EIF5B orients the initiator methionine-tRNA in a conformation that allows 60S ribosomal subunit joining to form the 80S initiation complex. Is released after 80S initiation complex formation, just after GTP hydrolysis by EIF5B, and before release of EIF5B. Its globular part is located in the A site of the 40S ribosomal subunit. Its interaction with EIF5 during scanning contribute to the maintenance of EIF1 within the open 43S PIC. In contrast to yeast orthologs, does not bind EIF1., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The N-terminal tail of eIF1A mediates the interaction with eIF5 and eIF1., [RefSeq, PubMed]; This gene is located on the non-recombining region of the Y chromosome. It encodes a protein related to eukaryotic translation initiation factor 1A (EIF1A), which may function in stabilizing the binding of the initiator Met-tRNA to 40S ribosomal subunits. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q9BS77", "ec_number_list": [], "go_molecular_function": "GO:0000049 tRNA binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006413 translational initiation", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "O14602-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VVX9-1", "uniprot_id": [ { "id": "UBE2U_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VVX9", "type": "external" } ], "mass": 37741.0, "length": 321, "protein_name": "Ubiquitin-conjugating enzyme E2 U", "gene_name": "UBE2U", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 U isoform 4", "refseq_ac": [ { "id": "NP_689702", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689702", "type": "external" } ], "gene_names_uniprotkb": "UBE2U", "gene_names_refseq": "UBE2U", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 U; 2.3.2.23; E2 ubiquitin-conjugating enzyme U; Ubiquitin carrier protein U; Ubiquitin-protein ligase U", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme U; testicular tissue protein Li 216; ubiquitin carrier protein U; ubiquitin conjugating enzyme E2 U (putative); ubiquitin conjugating enzyme E2U (putative); ubiquitin-conjugating enzyme E2 U isoform 4; ubiquitin-protein ligase U", "tax_id": 9606, "disease": "", "pathway": " (hsa:148581); (R-HSA-983168)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;22496338;2261476;27903633;33776059;35051231;9380723;9668046", "class_list": "", "function": "Catalyzes the covalent attachment of ubiquitin to other proteins., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Further mining of the UBE2U interactome uncovered its cognate E3 RNF17 as a novel factor that, via the radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties (RIDDLE) syndrome protein RNF168, enforces DNA damage responses., [RefSeq, PubMed]; Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "Q8N1D4", "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:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0033503 HULC complex", "go_biological_process": "GO:0006281 DNA repair;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0000209 protein polyubiquitination;GO:0032446 protein modification by small protein conjugation", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q5VVX9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96T21-1", "uniprot_id": [ { "id": "SEBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96T21", "type": "external" } ], "mass": 95462.0, "length": 854, "protein_name": "Selenocysteine insertion sequence-binding protein 2", "gene_name": "SECISBP2", "organism": "Human", "refseq_name": "selenocysteine insertion sequence-binding protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001269617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269617", "type": "external" } ], "gene_names_uniprotkb": "SECISBP2; SBP2", "gene_names_refseq": "SBP2; SECISBP2; THMA1", "protein_names_uniprotkb": "Selenocysteine insertion sequence-binding protein 2; SECIS-binding protein 2", "protein_names_refseq": "Sec insertion sequence-binding protein 2; selenocysteine insertion sequence-binding protein 2 isoform 2; selenocysteine insertion sequence-binding protein 2", "tax_id": 9606, "disease": "thyroid gland disease (Disease Ontology:DOID:50); thyroid hormone metabolism, abnormal 1 (MONDO:MONDO:0800046)", "pathway": " (hsa:79048); (R-HSA-2408557)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10970870;11230166;11237011;11265756;12095701;12403468;15317934;15534230;15821744;16228000;17142313;19004874;19608919;23481700;24366607;25576301;25645385;25892735;26992070;27600516;27920218;28228285;28832583;28904123;29242379;29331515;29351928;29557506;29882503;30315122;30379171;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33077808;33298915;33912179;33968037;33981976;34884733;35051231;35580925;35709277;36241641;40307207;8890909;9431993;9637248", "class_list": "", "function": "A report of a complex splicing pattern in the 5'-region of human SECISBP2, wherein at least eight splice variants encode five isoforms with varying N-terminal sequence., [RefSeq, PubMed]; Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency. Review article Publication Status: Online-Only, [RefSeq, PubMed]; In addition to identifying key amino acids for SECIS recognition by SBP2, our findings led to the proposal that some of the recognition principles governing the 15.5 kD-U4 snRNA interaction must be similar in the SBP2-SECIS RNA complex, [RefSeq, PubMed]; SECISBP2 is a novel prognostic predictor that regulates selenoproteins in diffuse large B-cell lymphoma., [RefSeq, PubMed]; The protein encoded by this gene is one of the essential components of the machinery involved in co-translational insertion of selenocysteine (Sec) into selenoproteins. Sec is encoded by the UGA codon, which normally signals translation termination. The recoding of UGA as Sec codon requires a Sec insertion sequence (SECIS) element; present in the 3' untranslated regions of eukaryotic selenoprotein mRNAs. This protein specifically binds to the SECIS element, which is stimulated by a Sec-specific translation elongation factor. Mutations in this gene have been associated with reduction in enzymatic activity of type II iodothyronine deiodinase (a selenoprotein) and abnormal thyroid hormone metabolism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]., [RefSeq]; mRNA-binding protein that binds to the SECIS (selenocysteine insertion sequence) element present in the 3'-UTR of mRNAs encoding selenoproteins and facilitates the incorporation of the rare amino acid selenocysteine (PubMed:35709277). Insertion of selenocysteine at UGA codons is mediated by SECISBP2 and EEFSEC: SECISBP2 (1) specifically binds the SECIS sequence once the 80S ribosome encounters an in-frame UGA codon and (2) contacts the RPS27A/eS31 of the 40S ribosome before ribosome stalling (PubMed:35709277). (3) GTP-bound EEFSEC then delivers selenocysteinyl-tRNA(Sec) to the 80S ribosome and adopts a preaccommodated state conformation (PubMed:35709277). (4) After GTP hydrolysis, EEFSEC dissociates from the assembly, selenocysteinyl-tRNA(Sec) accommodates, and peptide bond synthesis and selenoprotein elongation occur (PubMed:35709277)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 20, "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": "F8W892;Q5HYY1;Q7L1Z0;Q8IYC0;Q9H0A1", "ec_number_list": [], "go_molecular_function": "GO:0035368 selenocysteine insertion sequence binding;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0043021 ribonucleoprotein complex binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0001514 selenocysteine incorporation", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q96T21-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VW0-1", "uniprot_id": [ { "id": "SESD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VW0", "type": "external" } ], "mass": 79348.0, "length": 696, "protein_name": "SEC14 domain and spectrin repeat-containing protein 1", "gene_name": "SESTD1", "organism": "Human", "refseq_name": "SEC14 domain and spectrin repeat-containing protein 1", "refseq_ac": [ { "id": "NP_835224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835224", "type": "external" } ], "gene_names_uniprotkb": "SESTD1; SOLO", "gene_names_refseq": "SESTD1; Solo", "protein_names_uniprotkb": "SEC14 domain and spectrin repeat-containing protein 1; Huntingtin-interacting protein-like protein; Protein Solo", "protein_names_refseq": "SEC14 and spectrin domains 1; SEC14 domain and spectrin repeat-containing protein 1; huntingtin-interacting protein-like protein; protein Solo", "tax_id": 9606, "disease": "", "pathway": " (hsa:91404)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;19240061;20164195;22869377;23481700;25576301;25880248;26154972;26676784;26811146;26823019;26992070;27600516;27846572;27920218;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29672603;30429286;31844290;32157095;32357974;32387766;32502341;32938616;32983136;33298915;33592498;33912179;34171305;34509645;35051231;35318648;35580925;36010968;36241641;36284347;39894887", "class_list": "", "function": "May act as the primary docking protein directing membrane turnover and assembly of the transient receptor potential channels TRPC4 and TRPC5. Binds phospholipids such as phosphatidylinositol monophosphates, phosphatidylinositol diphosphates (PIP2s) and phosphatidic acid, but not less polar lipids including phosphatidylcholine, phosphatidylserine, and phosphatidylinositol. The binding to PIP2s is calcium dependent. Might be involved in the plasma membrane localization of CTNNB1., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SESTD1 was found to associate with TRPC4 and TRPC5 via the channel's calmodulin- and inositol 1,4,5-trisphosphate receptor-binding domain., [RefSeq, PubMed]; Solo plays a crucial role in HD formation and acinar development in epithelial cells by regulating mechanical force-induced RhoA activation and keratin filament organization. Publication Status: Online-Only, [RefSeq, PubMed]; The interplay between Solo protein and keratin 8/keratin 18 filaments plays a crucial role in tensile force-induced RhoA activation and consequent actin cytoskeletal reinforcement in endothelial cells., [RefSeq, PubMed]; Upregulation of miR-532-5p and subsequent suppression of the SESTD1 and TAB3 genes represent an antiviral response aimed at limiting West Nile virus infection. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "Q53R38;Q53SP3;Q5GM69;Q8N6M1;Q96LQ2", "ec_number_list": [], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding;GO:0070273 phosphatidylinositol-4-phosphate binding", "go_cellular_component": "GO:0045111 intermediate filament cytoskeleton", "go_biological_process": "GO:1904878 negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q86VW0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZ42-1", "uniprot_id": [ { "id": "PEN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZ42", "type": "external" } ], "mass": 12029.0, "length": 101, "protein_name": "Gamma-secretase subunit PEN-2", "gene_name": "PSENEN", "organism": "Human", "refseq_name": "gamma-secretase subunit PEN-2", "refseq_ac": [ { "id": "NP_001268461", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268461", "type": "external" } ], "gene_names_uniprotkb": "PSENEN; MDS033; PEN2", "gene_names_refseq": "ACNINV2; MDS033; MSTP064; PEN-2; PEN2; PSENEN", "protein_names_uniprotkb": "Gamma-secretase subunit PEN-2; Presenilin enhancer protein 2", "protein_names_refseq": "gamma-secretase subunit PEN-2; hematopoietic stem/progenitor cells protein MDS033; presenilin enhancer 2 homolog", "tax_id": 9606, "disease": "hidradenitis suppurativa (Disease Ontology:DOID:2280)", "pathway": " (hsa:55851); (R-HSA-1251985); (R-HSA-193692); (R-HSA-205043); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-2979096); (R-HSA-3928665); (R-HSA-9013507); (R-HSA-9013700); (R-HSA-9017802); (R-HSA-977225); (R-HSA-9839383)", "pathway_count": 14, "publication_count": 256, "publication_id_list": "10079256;10097139;10206645;10319874;10391242;10411933;10551863;10583407;10713164;10879540;10882063;10934472;10956649;10958687;10964718;11006133;11044625;11171333;11226752;11237011;11278841;11401442;11448999;11467836;11518718;11590439;11679632;11740940;11823422;11861489;118839;12050117;12110170;12198112;12209127;12354787;12391150;12454989;12522139;12530964;12639958;12679784;1270801;12740439;12763021;12807903;12843241;12913006;12973357;14506261;14567678;14567914;14960584;14980219;15023535;15064394;15107403;15351694;15533827;15534001;15546612;15569487;15574878;15652348;15701642;15760269;15824097;15829515;15848800;15962837;15965470;16061658;16093323;16174740;16252010;16284625;16511561;16530044;16630834;16738328;16773578;16799559;16912174;17003037;17018285;17028573;17114293;17401372;17425515;17428795;17646408;17646409;18043734;18065497;18070888;18077452;18237417;18296446;1837051;18374649;1840698;18418349;18449172;18469519;18484335;1849145;18628966;18653779;18700817;18713744;18824583;18824585;19000840;19011241;19047365;19151708;19208840;19524514;19567869;19596786;19640841;19658395;19726682;19828817;20156974;20496116;20676056;20807650;20929727;20972443;2118650;21632553;21872626;2195544;21993680;22065755;22131221;22162134;22658935;22658936;23230144;23481700;23813966;2409350;24308844;24714562;24829397;24833601;24842903;24893886;24941111;25043039;25125655;25356737;25523424;25576301;25645385;25740432;25880248;26018760;26280335;26375851;26417681;26668317;26686862;26728094;26807092;26992070;27543614;27600516;27862975;279930;28218747;28228285;28832583;28834231;28904123;2900981;29242379;29437277;29493099;29508533;29557506;29786170;29856954;29856955;30315122;3035556;30410026;30429286;3053705;30598546;30630874;30779550;3080684;30833945;3094007;31154438;31222486;3142462;3153318;31844290;31848261;32157095;32357974;32488085;32502341;32631487;32897882;32938616;32983136;33141586;33592498;33633747;33691108;33717175;33912179;33936100;33981976;34087483;34171305;34330582;34964690;35051231;35154160;35458534;35580925;36010968;36284347;3675579;7566092;7588063;803282;8033412;8097946;8114934;8159701;8313469;8464497;8490014;8870004;9006323;9054935;9207787;9207788;9244301;9315665;9384573;9462510;9590294;9604939;9620803;9651681;9694793;9819428;9862427", "class_list": "", "function": "A component of the gamma-secretase complex, [RefSeq, PubMed]; Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system., [RefSeq, PubMed]; Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12522139, PubMed:12679784, PubMed:12740439, PubMed:12763021, PubMed:24941111, PubMed:30598546, PubMed:30630874). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity (PubMed:12522139, PubMed:12679784, PubMed:12740439, PubMed:12763021, PubMed:24941111). Besides its role in gamma-secretase complex, acts as a regulator of AMP-activated protein kinase (AMPK) activity in response to calorie restriction: binds metformin, an antidiabetic drug, promoting association with ATP6AP1, a subunit of the V-ATPase complex, leading to V-ATPase complex inhibition on lysosomes and AMPK activation via the AXIN1-STK11/LKB1 axis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Examination of membrane topology, [RefSeq, PubMed]; Human Papillomavirus L2 Capsid Protein Stabilizes gamma-Secretase during Viral Infection. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in gamma-secretase subunit-encoding PSENEN gene alone may not be sufficient for the development of acne inversa., [RefSeq, PubMed]; Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]; Role in regulating proteolytic processing of presenilin 1 in conjunction with APH-1, [RefSeq, PubMed]; Super-resolution microscopy reveals majorly mono- and dimeric presenilin1/gamma-secretase at the cell surface. 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": 12, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5L9", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0061133 endopeptidase activator 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:0006509 membrane protein ectodomain proteolysis;GO:0007219 Notch signaling pathway;GO:0007220 Notch receptor processing;GO:0016485 protein processing;GO:0042982 amyloid precursor protein metabolic process", "synthesized_glycan_count": 0, "hit_score": 25.7, "record_id": "Q9NZ42-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG29-1", "uniprot_id": [ { "id": "GST2_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG29", "type": "external" } ], "mass": 27506.0, "length": 244, "protein_name": "Glutathione S-transferase theta-2", "gene_name": "GSTT2", "organism": "Human", "refseq_name": "glutathione S-transferase theta-2 isoform a", "refseq_ac": [ { "id": "NP_000845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000845", "type": "external" } ], "gene_names_uniprotkb": "GSTT2", "gene_names_refseq": "GSTT2", "protein_names_uniprotkb": "Glutathione S-transferase theta-2; 2.5.1.18; GST class-theta-2", "protein_names_refseq": "GST class-theta-2; glutathione S-transferase theta-2 isoform a; glutathione S-transferase theta-2", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595)", "pathway": " (hsa:2953); (R-HSA-156590)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10329152;10587441;10783391;10975610;11327815;11904223;12042665;12211029;12627223;1417752;14742434;16081649;16298388;16548513;20083122;20085333;21106529;21349909;21598179;21668448;22522127;23162467;30578782;31844290;32157095;32983136;33592498;3372534;33968037;34758158;35051231;36241641;3770744;4768551;8182750;8203914;8331657;8431482;8703034;8761485;8812420;9278457;9551553;9839448", "class_list": "", "function": "Analysis of glutathione S-transferase copy number variation alters lung gene expression, [RefSeq, PubMed]; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles (PubMed:1417752). Has a sulfatase activity (PubMed:1417752)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Increased levels of GSTT2 in esophageal tissues of African American individuals might protect them from GERD-induced damage and contribute to the low incidence of esophageal adenocarcinoma in this population., [RefSeq, PubMed]; Polyphenol metabolites did not affect cell number but significantly upregulated GSTT2 expression and decreased COX-2., [RefSeq, PubMed]; Proanthocyanidins mitigate bile acid-induced changes in GSTT2 levels in a panel of racially diverse patient-derived primary esophageal cell cultures., [RefSeq, PubMed]; The protein encoded by this gene, glutathione S-transferase (GST) theta 2 (GSTT2), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2 gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "O60665;P30712;Q6IPV7;Q9HD76", "ec_number_list": [ { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "5.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.2", "type": "external" }, { "id": "5.3.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.2", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "1.20.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.20.4.2", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" } ], "go_molecular_function": "GO:0004364 glutathione transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P0CG29-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DP5-1", "uniprot_id": [ { "id": "FMT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DP5", "type": "external" } ], "mass": 43832.0, "length": 389, "protein_name": "Methionyl-tRNA formyltransferase, mitochondrial", "gene_name": "MTFMT", "organism": "Human", "refseq_name": "methionyl-tRNA formyltransferase, mitochondrial", "refseq_ac": [ { "id": "NP_640335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_640335", "type": "external" } ], "gene_names_uniprotkb": "MTFMT; FMT1; FMT", "gene_names_refseq": "COXPD15; FMT1; MC1DN27; MTFMT", "protein_names_uniprotkb": "Methionyl-tRNA formyltransferase, mitochondrial; 2.1.2.9; MtFMT", "protein_names_refseq": "methionyl-tRNA formyltransferase, mitochondrial", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 15 (Disease Ontology:DOID:0111491); nuclear type mitochondrial complex I deficiency 27 (Disease Ontology:DOID:0112090)", "pathway": " (hsa:123263); (R-HSA-5368286)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "11237011;20877624;21907147;22499348;23481700;24461907;25288793;25418920;25505266;25892735;26811146;26992070;28063628;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29557506;29632046;29769354;31217245;31844290;32133637;32157095;32265295;32350084;32636430;33912179;35561310;36241641;36581221", "class_list": "", "function": "Data indicate that methionyl-tRNA formyltransferase (MTF) mutation initiated poor formylation of mitochondrial methionyl-tRNA and thereby reduced mitochondrial translation efficiency, causing Leigh syndrome. GeneRIF: Recessive mutations in MTFMT underlie defects of the mitochondrial respiratory chain, leading to multi-system disease that includes Leigh syndrome. This paper reports on the biochemical activity of such mutant alleles., [RefSeq, PubMed]; First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants., [RefSeq, PubMed]; MTFMT deficiency correlates with reduced mitochondrial integrity and enhanced host susceptibility to intracellular infection. Publication Status: Online-Only, [RefSeq, PubMed]; Methionyl-tRNA formyltransferase that formylates methionyl-tRNA in mitochondria and is crucial for translation initiation., [UniProtKB, PubMed, PubMed]; Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]., [RefSeq]; We provide detailed clinical descriptions on eleven MTFMT patients and review five previously reported cases, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z734", "ec_number_list": [ { "id": "2.1.2.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.2.9", "type": "external" } ], "go_molecular_function": "GO:0004479 methionyl-tRNA formyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0071951 conversion of methionyl-tRNA to N-formyl-methionyl-tRNA", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q96DP5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08779-1", "uniprot_id": [ { "id": "K1C16_HUMAN", "url": "https://www.uniprot.org/uniprot/P08779", "type": "external" } ], "mass": 51268.0, "length": 473, "protein_name": "Keratin, type I cytoskeletal 16", "gene_name": "KRT16", "organism": "Human", "refseq_name": "keratin, type I cytoskeletal 16", "refseq_ac": [ { "id": "NP_005548", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005548", "type": "external" } ], "gene_names_uniprotkb": "KRT16; KRT16A", "gene_names_refseq": "CK16; FNEPPK; K16; K1CP; KRT16A; KRT16; NEPPK; PC1", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 16; CK-16; Cytokeratin-16; K16; Keratin-16", "protein_names_refseq": "cytokeratin 16; focal non-epidermolytic palmoplantar keratoderma; keratin 16, type I; keratin, type I cytoskeletal 16", "tax_id": 9606, "disease": "nonepidermolytic palmoplantar keratoderma (Disease Ontology:DOID:0050428); pachyonychia congenita (Disease Ontology:DOID:0050449); focal nonepidermolytic palmoplantar keratoderma 1 (Disease Ontology:DOID:0111709); ectodermal dysplasia (Disease Ontology:DOID:2121); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748)", "pathway": " (hsa:3868); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 105, "publication_id_list": "10066784;10196183;10231017;10411887;10521820;10588656;10606845;10771479;10839714;10844556;11237011;11350120;11359398;11380615;11590230;11840567;11886499;12443847;1286667;12902340;15033990;15337775;15373777;15373909;15731013;15797384;15803139;16061697;16250206;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;17719747;18843291;19190773;19194479;20068231;20179351;20657595;20667819;20940292;21160496;21326300;21439340;21654840;21997417;22668561;22967762;23481192;23481700;23629652;24118415;2414304;2431270;2451124;25208914;25926655;26375851;26390218;26758872;26853435;26992070;27452731;29393594;29557506;29786170;30429286;31611695;31844290;32157095;32350084;32938616;33214551;33968037;34019948;34171305;34211107;34509645;35037835;35051231;35580925;36010968;36149327;36241641;37217939;37315823;38665916;38892279;39990658;41018975;7487986;7539673;7543090;8595410;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "A novel KRT16 frameshift variant causing pachyonychia congenita by re-initiation of translation., [RefSeq, PubMed]; BarH-like homeobox 2 represses the transcription of keratin 16 and affects Ras signaling pathway to suppress nasopharyngeal carcinoma progression., [RefSeq, PubMed]; Epidermis-specific type I keratin that plays a key role in skin. Acts as a regulator of innate immunity in response to skin barrier breach: required for some inflammatory checkpoint for the skin barrier maintenance., [UniProtKB, UniProtKB]; GLI Transcriptional Targets S100A7 and KRT16 Show Upregulated Expression Patterns in Epidermis Overlying the Tumor Mass in Melanoma Samples. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting the KRT16-vimentin axis for metastasis in lung cancer., [RefSeq, PubMed]; The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [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": 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": "A8K488;P30654;Q16402;Q9UBG8", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0030280 structural constituent of skin epidermis;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0005882 intermediate filament", "go_biological_process": "GO:0051546 keratinocyte migration;GO:0006954 inflammatory response;GO:0031424 keratinization;GO:0045087 innate immune response;GO:0061436 establishment of skin barrier", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "P08779-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y242-1", "uniprot_id": [ { "id": "TCF19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y242", "type": "external" } ], "mass": 37184.0, "length": 345, "protein_name": "Transcription factor 19", "gene_name": "TCF19", "organism": "Human", "refseq_name": "transcription factor 19 isoform 1", "refseq_ac": [ { "id": "NP_001070979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070979", "type": "external" } ], "gene_names_uniprotkb": "TCF19; SC1", "gene_names_refseq": "SC1; TCF-19; TCF19", "protein_names_uniprotkb": "Transcription factor 19; TCF-19; Transcription factor SC1", "protein_names_refseq": "transcription factor 19 isoform 1; transcription factor SC1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6941); (R-HSA-9940951)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10204490;10777095;10970879;10978333;11237011;16702430;17525332;17646674;1868030;21076979;24554700;25150861;25593309;26768311;27503676;27633282;27732854;27846572;28832583;29042441;30045876;30134174;31141247;31746185;31844290;32161166;33298915;34085947;34171305;34369624;34610795;35051231;36008597;36241641;38579171;7969165;9512513", "class_list": "", "function": "A linkage disequilibrium analysis established TCF19, POU5F1, CCHCR1 and PSORS1C1 as potential causal genes for the type 1 diabetes., [RefSeq, PubMed]; Exon and intron sharing in opposite direction-an undocumented phenomenon in human genome-between Pou5f1 and Tcf19 genes. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population., [RefSeq, PubMed]; Multidimensional data analysis revealed thyroiditis-associated TCF19 SNP rs2073724 as a highly ranked protective variant in thyroid cancer., [RefSeq, PubMed]; Potential transcription factor that may play a role in the regulation of genes involved in cell cycle G1/S transition. May bind to regulatory elements of genes, including the promoter of the transcription factor FOXO1., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TCF19 and p53 regulate transcription of TIGAR and SCO2 in HCC for mitochondrial energy metabolism and stress adaptation., [RefSeq, PubMed]; This gene encodes a protein that contains a PHD-type zinc finger domain and likely functions as a transcription factor. The encoded protein plays a role proliferation and apoptosis of pancreatic beta cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A6NCT8;B0UY11;Q0EFA8;Q13176;Q15967;Q5SQ89;Q5STD6;Q5STF5;Q9BUM2;Q9UBH7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9Y242-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CL80-1", "uniprot_id": [ { "id": "GG12F_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CL80", "type": "external" } ], "mass": 12978.0, "length": 117, "protein_name": "G antigen 12F", "gene_name": "GAGE12F", "organism": "Human", "refseq_name": "G antigen 12F", "refseq_ac": [ { "id": "NP_001091875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091875", "type": "external" } ], "gene_names_uniprotkb": "GAGE12F", "gene_names_refseq": "GAGE-12F; GAGE12F", "protein_names_uniprotkb": "G antigen 12F; GAGE-12F", "protein_names_refseq": "G antigen 12F", "tax_id": 9606, "disease": "", "pathway": " (hsa:100008586); (hsa:2579); (hsa:26748); (hsa:645073)", "pathway_count": 4, "publication_count": 2, "publication_id_list": "18179644;30871606", "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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q66I50", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0CL80-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15319-1", "uniprot_id": [ { "id": "PO4F3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15319", "type": "external" } ], "mass": 37052.0, "length": 338, "protein_name": "POU domain, class 4, transcription factor 3", "gene_name": "POU4F3", "organism": "Human", "refseq_name": "POU domain, class 4, transcription factor 3", "refseq_ac": [ { "id": "NP_002691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002691", "type": "external" } ], "gene_names_uniprotkb": "POU4F3; BRN3C", "gene_names_refseq": "BRN3C; DFNA15; DFNA42; DFNA52; POU4F3", "protein_names_uniprotkb": "POU domain, class 4, transcription factor 3; Brain-3C; Brain-specific homeobox/POU domain protein 3C; Brn-3C", "protein_names_refseq": "POU domain, class 4, transcription factor 3; brain-3C; brain-specific homeobox/POU domain protein 3C; brn-3C; deafness, autosomal dominant 42", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 15 (Disease Ontology:DOID:0110546)", "pathway": " (hsa:5459)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "12209986;18228599;18347256;22938506;24260153;25388789;28545070;28790396;32390314;32684921;34250087;35051231;37072551;37537203;7623109;9506947", "class_list": "", "function": "A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities. Publication Status: Online-Only, [RefSeq, PubMed]; Acts as a transcriptional activator (PubMed:18228599). Acts by binding to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes (PubMed:18228599). Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear (By similarity)., [UniProtKB, UniProtKB, PubMed]; Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss. Publication Status: Online-Only, [RefSeq, PubMed]; Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses., [RefSeq, PubMed]; Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families., [RefSeq, PubMed]; Proneural and proneuroendocrine transcription factor expression in cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinoma Erratum:[Int J Cancer. 2004 Dec 20;112(6):1086], [RefSeq, PubMed]; Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "O60557;Q2M3F8", "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:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007601 visual perception", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q15319-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DA2-1", "uniprot_id": [ { "id": "RB39B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DA2", "type": "external" } ], "mass": 24622.0, "length": 213, "protein_name": "Ras-related protein Rab-39B", "gene_name": "RAB39B", "organism": "Human", "refseq_name": "ras-related protein Rab-39B", "refseq_ac": [ { "id": "NP_741995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_741995", "type": "external" } ], "gene_names_uniprotkb": "RAB39B", "gene_names_refseq": "BGMR; MRX72; RAB39B; WSMN; WSN; XLID72", "protein_names_uniprotkb": "Ras-related protein Rab-39B; 3.6.5.2", "protein_names_refseq": "Waisman syndrome; ras-related protein Rab-39B", "tax_id": 9606, "disease": "syndromic X-linked intellectual disability (Disease Ontology:DOID:0060309); Waisman syndrome (Disease Ontology:DOID:0111781); non-syndromic X-linked intellectual disability 72 (Disease Ontology:DOID:0112059)", "pathway": " (hsa:116442); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 228, "publication_id_list": "10818110;10990452;11038176;11141079;11179213;11389151;11447212;11516400;11675392;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12438742;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16401880;16410077;1648736;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18532927;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19603039;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;22694141;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;24023390;24296415;24349490;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25434005;25472813;25648148;25713415;25784538;25880248;25925668;26055712;26177209;26245486;26399558;26434594;26538022;26739247;26925400;26936971;26969162;27041585;27044746;27066548;27103069;27103185;27246931;27329675;27459931;28832583;29242379;29493099;29632711;31844290;32350084;32357974;32502341;34171305;34761259;36715921;37821429;38293822;39894887;7688123;7911226;7957092;7991565;8144603;8164745;8349690;8375503;8408203;8513495;8522602;8631982;8662963;8836150;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model., [RefSeq, PubMed]; Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and Upregulating alpha-Synuclein., [RefSeq, PubMed]; Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder., [RefSeq, PubMed]; RAB39B was expressed in a variety of human tissues and located in human chromosome Xq28., [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 (PubMed:27103069). RAB39B is involved in autophagy and may function in autophagosome formation (PubMed:27103069, PubMed:37821429). Binds downstream effector PICK1 to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR composition at the post-synapses and thus synaptic transmission (By similarity). May regulate the homeostasis of SNCA/alpha-synuclein (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; These results demonstrate developmental and functional neuronal alteration as a consequence of downregulation of RAB39B and emphasize the critical role of vesicular trafficking in the development of neurons and human intellectual abilities., [RefSeq, PubMed]; This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [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": 2, "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": "Q5JT79;Q8NEX3", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0031489 myosin V binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0030659 cytoplasmic vesicle membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0010506 regulation of autophagy;GO:0015031 protein transport;GO:0050808 synapse organization;GO:0006914 autophagy;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 23.1, "record_id": "Q96DA2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKA8-1", "uniprot_id": [ { "id": "RCAN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKA8", "type": "external" } ], "mass": 27492.0, "length": 241, "protein_name": "Calcipressin-3", "gene_name": "RCAN3", "organism": "Human", "refseq_name": "calcipressin-3 isoform 1", "refseq_ac": [ { "id": "NP_001238906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238906", "type": "external" } ], "gene_names_uniprotkb": "RCAN3; DSCR1L2", "gene_names_refseq": "DSCR1L2; MCIP3; RCAN3", "protein_names_uniprotkb": "Calcipressin-3; Down syndrome candidate region 1-like protein 2; MCIP3; Myocyte-enriched calcineurin-interacting protein 3; Regulator of calcineurin 3", "protein_names_refseq": "Down syndrome candidate region 1-like 2; Down syndrome critical region gene 1-like 2; RCAN family member 3; calcipressin-3 isoform 1; calcipressin-3; down syndrome candidate region 1-like protein 2; myocyte-enriched calcineurin-interacting protein 3", "tax_id": 9606, "disease": "Down syndrome (Disease Ontology:DOID:14250); hypothyroidism (Disease Ontology:DOID:1459)", "pathway": " (hsa:11123); (R-HSA-9692916)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10756093;11237011;15208624;16516408;17035307;17081983;17270291;17412287;17596301;17761676;18022329;19074885;19380580;19398035;21961037;22046132;22253733;22312431;23483519;24509444;24622840;24854014;25135833;25764917;25907116;26248042;26320399;26378163;27164085;27203180;28148787;29294448;29493099;30185776;30779550;31034780;31231549;31844290;31848261;32157095;32161166;32345470;32387766;32728199;32938616;32983136;33060197;33592498;33968037;34087483;34171305;35051231;35580925;35640493;36241641;38181896;9989503", "class_list": "", "function": "Functional implications of miR-145/RCAN3 axis in the progression of cervical cancer., [RefSeq, PubMed]; Human RCAN3, encoded by the RCAN3 (also known as DSCR1L2) gene, interacts physically and functionally with calcineurin, [RefSeq, PubMed]; Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development (By similarity)., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RCAN family member 3 deficiency contributes to noncompaction of the ventricular myocardium., [RefSeq, PubMed]; The PxIxIT motif of the RCAN3 inhibits angiogenesis and tumor progression in Triple Negative breast cancer in immunocompetent mice., [RefSeq, PubMed]; The interaction between TNNI3 and the new R variants of RCAN3, RCAN3-2,3,5 and RCAN3-2,4,5, is reported., [RefSeq, PubMed]; The yeast cotransformation and GST fusion protein assay demonstrated the interaction between this new DSCR1L2 variant and the human cardiac troponin I., [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": 4, "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": "A4GU14;A4LA69;E3VWE2;E5L4P0;E5L4P7;E7ENV1;E7EWD8;G1FI66;G1FLF0;Q5ECL3;Q5TGC6;Q9NUC8;Q9UKA7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019902 phosphatase binding;GO:0008597 calcium-dependent protein serine/threonine phosphatase regulator activity;GO:0031013 troponin I binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0019722 calcium-mediated signaling;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9UKA8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPN6-1", "uniprot_id": [ { "id": "SCAF8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPN6", "type": "external" } ], "mass": 140519.0, "length": 1271, "protein_name": "SR-related and CTD-associated factor 8", "gene_name": "SCAF8", "organism": "Human", "refseq_name": "SR-related and CTD-associated factor 8 isoform a", "refseq_ac": [ { "id": "NP_001273117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273117", "type": "external" } ], "gene_names_uniprotkb": "SCAF8; CCAP7; KIAA1116; RBM16", "gene_names_refseq": "RBM16; SCAF8", "protein_names_uniprotkb": "SR-related and CTD-associated factor 8; CDC5L complex-associated protein 7; RNA-binding motif protein 16", "protein_names_refseq": "CDC5L complex-associated protein 7; RNA-binding motif protein 16; SR-like CTD-associated factor 8; SR-related and CTD-associated factor 8 isoform a; SR-related and CTD-associated factor 8; protein SCAF8", "tax_id": 9606, "disease": "syndrome (Disease Ontology:DOID:225)", "pathway": " (hsa:22828)", "pathway_count": 1, "publication_count": 113, "publication_id_list": "10.1101/2023.09.13.557529;11101529;11237011;17081983;17322306;17525332;18077418;18452278;18550522;18669648;19413330;19651622;19664994;19664995;20068230;20068231;20388717;21406692;22661428;22898188;23186163;23301498;23481700;24129315;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26992070;27114449;27600516;27920218;28218747;28228285;28401168;28446606;28510447;28649982;28657654;28832583;28834231;28904123;29242379;29351928;29508533;29557506;30059200;30315122;30379171;30524438;30620550;31104839;31154438;31222486;31492838;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34405274;34509645;34561969;34725712;34846842;34932366;35051231;35132862;35138101;35254053;35289036;35318648;35513511;35580925;35705054;36010968;36215666;36241641;37340703;37541260;38665916;38838015;39531497;39534244;40307207;9528809", "class_list": "", "function": "Anti-terminator protein required to prevent early mRNA termination during transcription (PubMed:31104839). Together with SCAF4, acts by suppressing the use of early, alternative poly(A) sites, thereby preventing the accumulation of non-functional truncated proteins (PubMed:31104839). Mechanistically, associates with the phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit (POLR2A), and subsequently binds nascent RNA upstream of early polyadenylation sites to prevent premature mRNA transcript cleavage and polyadenylation (PubMed:31104839). Independently of SCAF4, also acts as a positive regulator of transcript elongation (PubMed:31104839)., [UniProtKB, PubMed]; SCAF8-CNKSR3 variant rs955333 was not associated with diabetic kidney disease but showed association with diabetic retinopathy in Chinese type 2 diabetes patients, [RefSeq, PubMed]; Together, SCAF4 and SCAF8 coordinate the transition between elongation and termination, ensuring correct polyA site selection and RNAPII transcriptional termination in human 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": 1, "reported_o_glycosites_with_glycan": 19, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 19, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 19, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "B7Z888;Q5TBU6;Q6NSK3;Q9BQN8;Q9BX43", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0000993 RNA polymerase II complex binding;GO:0043175 RNA polymerase core enzyme binding;GO:1990269 RNA polymerase II C-terminal domain phosphoserine binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016363 nuclear matrix;GO:0005849 mRNA cleavage factor complex", "go_biological_process": "GO:0006369 termination of RNA polymerase II transcription;GO:0032786 positive regulation of DNA-templated transcription, elongation;GO:2000805 negative regulation of termination of RNA polymerase II transcription, poly(A)-coupled;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q9UPN6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12874-1", "uniprot_id": [ { "id": "SF3A3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12874", "type": "external" } ], "mass": 58849.0, "length": 501, "protein_name": "Splicing factor 3A subunit 3", "gene_name": "SF3A3", "organism": "Human", "refseq_name": "splicing factor 3A subunit 3 isoform 1", "refseq_ac": [ { "id": "NP_006793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006793", "type": "external" } ], "gene_names_uniprotkb": "SF3A3; SAP61", "gene_names_refseq": "PRP9; PRPF9; SAP61; SF3A3; SF3a60", "protein_names_uniprotkb": "Splicing factor 3A subunit 3; SAP 61; SF3a60; Spliceosome-associated protein 61", "protein_names_refseq": "SAP 61; pre-mRNA splicing factor SF3a (60kD); spliceosome associated protein 61; splicing factor 3A subunit 3 isoform 1; splicing factor 3a, subunit 3, 60kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:10946); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 5, "publication_count": 246, "publication_id_list": "10199952;10669729;10882114;11014198;11060040;11101529;11233976;11533230;11747608;11991638;12176931;12411573;12414731;12477934;12682017;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15565158;15592455;15647753;16263726;16314458;16372014;16809785;17081983;17095540;17098193;17128255;17332742;17433364;17606899;17717186;18042460;18288197;18322460;18452278;18593880;18669648;19103666;19159218;19165350;19217410;19536130;19562805;19608861;19664994;19690332;20068231;20211137;20423332;20695905;20980672;21295486;21349847;21406692;21536652;2176635;21911577;21993680;22046413;22110043;22121020;22223895;22365833;22569126;22645359;22813749;22898188;22922743;22959432;22961380;23186163;23222130;23236153;23345524;23481700;23874216;24076191;24149845;24196718;24304693;24448447;24714562;24715725;24737827;24914973;25301780;25301781;25418920;25555158;25576301;2558966;25810538;25880248;25892735;26024233;26092250;26154972;26375851;26385511;26420826;26768311;26929215;26969736;26992070;27108190;27377154;27459055;27600516;27661449;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28510447;28514659;28649982;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29331515;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29902443;30139799;30257008;30315122;30315277;30379171;30410026;30429286;30524438;30599162;30705154;30728453;30765414;30779550;30975767;31154438;31217245;31222486;31409651;31530632;31844290;31848261;32157095;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32816001;32870666;32897882;32938616;32983136;33141586;33177556;33214551;33243851;33298915;33446560;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34301950;34357683;34509645;34561969;34822310;34932366;35051231;35083852;35177536;35215846;35251023;35318648;35365208;35385551;35561310;35580925;36010968;36241641;36284347;36581221;36797247;37217939;3757028;38665916;39302247;40914422;7816610;8022796;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "CircSCAP interacts with SF3A3 to inhibit the malignance of non-small cell lung cancer by activating p53 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:10882114, PubMed:11533230, PubMed:32494006, PubMed:34822310, PubMed:8022796). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing (PubMed:10882114, PubMed:11533230, PubMed:32494006, PubMed:34822310). Within the 17S U2 SnRNP complex, SF3A3 is part of the SF3A subcomplex that contributes to the assembly of the 17S U2 snRNP, and the subsequent assembly of the pre-spliceosome 'E' complex and the pre-catalytic spliceosome 'A' complex (PubMed:10882114, PubMed:11533230). Involved in pre-mRNA splicing as a component of pre-catalytic spliceosome 'B' complexes (PubMed:29360106, PubMed:30315277)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. 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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 1, "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": "D3DPT5;Q15460;Q5VT87", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0006397 mRNA processing;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome;GO:0000389 mRNA 3'-splice site recognition", "synthesized_glycan_count": 0, "hit_score": 25.0, "record_id": "Q12874-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UM82-1", "uniprot_id": [ { "id": "SPAT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UM82", "type": "external" } ], "mass": 58427.0, "length": 520, "protein_name": "Spermatogenesis-associated protein 2", "gene_name": "SPATA2", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 2", "refseq_ac": [ { "id": "NP_001129245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129245", "type": "external" } ], "gene_names_uniprotkb": "SPATA2; KIAA0757; PD1", "gene_names_refseq": "PD1; PPP1R145; SPATA2; tamo", "protein_names_uniprotkb": "Spermatogenesis-associated protein 2", "protein_names_refseq": "protein phosphatase 1, regulatory subunit 145; spermatogenesis associated PD1; spermatogenesis-associated protein 2; spermatogenesis-associated protein PD1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9825); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956)", "pathway_count": 4, "publication_count": 128, "publication_id_list": "10222154;10521396;10837247;11079456;11098060;11181075;11427719;11577081;12167698;12531478;12709429;12721308;12887920;14716293;15024054;15258597;15870263;16260783;16282325;16603398;16682944;16829951;16829952;16953224;17314102;17702576;18178551;18669648;19278658;19289468;19416807;19605492;19690332;19910467;20005846;20185725;20219915;20304918;20385093;21235526;21408173;22179575;22297296;22435550;22848449;23186163;23313255;23481700;23746843;24098568;24246475;24323043;24726323;24726327;25502872;25565632;25880248;26344099;26375851;26900751;26992070;26997266;27307491;27458237;27545878;27552911;27591049;27846572;28189684;28228285;28506461;28657654;28832583;28920952;28920954;29242379;29393594;29493099;29508533;29642005;30146158;30315122;30361438;30379171;30420664;30429286;30697874;30988283;31154438;31366726;31492838;31511692;31530632;31844290;32157095;32320653;32350084;32357974;32387766;32488085;32502341;32938616;32938750;32983136;33298915;33469115;33592498;33717175;33912179;33968037;33981976;34078123;34162724;34363755;34876703;34932366;35051231;35251023;35254053;35580925;35941131;38665916;39302247;39531497;7531702;7667287;9049422;9065443", "class_list": "", "function": "A role of SPATA2 in tumorigenesis., [RefSeq, PubMed]; Bridging factor that mediates the recruitment of CYLD to the LUBAC complex, thereby regulating TNF-induced necroptosis (PubMed:27307491, PubMed:27458237, PubMed:27545878, PubMed:27591049). Acts as a direct binding intermediate that bridges RNF31/HOIP, the catalytic subunit of the LUBAC complex, and the deubiquitinase (CYLD), thereby recruiting CYLD to the TNF-R1 signaling complex (TNF-RSC) (PubMed:27458237, PubMed:27545878, PubMed:27591049). Required to activate the 'Met-1'- (linear) and 'Lys-63'-linked deubiquitinase activities of CYLD (PubMed:27458237, PubMed:27591049). Controls the kinase activity of RIPK1 and TNF-induced necroptosis by promoting 'Met-1'-linked deubiquitination of RIPK1 by CYLD (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Cloning and base sequence of the promoter region, [RefSeq, PubMed]; Disappearance of TLD epitope reactivity from an otherwise stable EBV-specific response reflects selective loss of cognate antigen restimulation, not IL-7-dependent signals, and is immediately preceded by PD-1 upregulation to unprecedented levels., [RefSeq, PubMed]; The data reveal SPATA2 as a high-affinity binding partner of CYLD and HOIP, and a regulatory component of linear ubiquitin chain assembly complex-mediated NF-kappaB signaling., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 7, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "E1P626;O94857", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:1990381 ubiquitin-specific protease binding;GO:0030159 signaling receptor complex adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007283 spermatogenesis;GO:0070536 protein K63-linked deubiquitination;GO:0050727 regulation of inflammatory response;GO:0010803 regulation of tumor necrosis factor-mediated signaling pathway;GO:0060544 regulation of necroptotic process", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9UM82-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P82970-1", "uniprot_id": [ { "id": "HMGN5_HUMAN", "url": "https://www.uniprot.org/uniprot/P82970", "type": "external" } ], "mass": 31525.0, "length": 282, "protein_name": "High mobility group nucleosome-binding domain-containing protein 5", "gene_name": "HMGN5", "organism": "Human", "refseq_name": "high mobility group nucleosome-binding domain-containing protein 5", "refseq_ac": [ { "id": "NP_110390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110390", "type": "external" } ], "gene_names_uniprotkb": "HMGN5; NSBP1", "gene_names_refseq": "HMGN5; NBP-45; NSBP1", "protein_names_uniprotkb": "High mobility group nucleosome-binding domain-containing protein 5; Nucleosome-binding protein 1", "protein_names_refseq": "high mobility group nucleosome-binding domain-containing protein 5; nucleosomal binding protein 1; nucleosome-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79366)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11161810;11237011;15592455;18212344;18669648;20068231;20123071;20531280;23186163;25114211;25218447;25772364;30379171;31844290;31930127;32596388;33465208;33467898;33629303;34946949;40596516", "class_list": "", "function": "A positive correlation was observed between NSBP1 expression and cell proliferation and apoptosis in DU145 cells., [RefSeq, PubMed]; HIF1A upregulated the transcription factor GATA1 and further promoted the expression of HMGN5. Publication Status: Online-Only, [RefSeq, PubMed]; HMGN5 Silencing Suppresses Cell Biological Progression via AKT/MAPK Pathway in Human Glioblastoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; HMGN5 promotes invasion and migration of colorectal cancer through activating FGF/FGFR pathway., [RefSeq, PubMed]; Preferentially binds to euchromatin and modulates cellular transcription by counteracting linker histone-mediated chromatin compaction., [UniProtKB]; Prognostic value of HMGN family expression in acute myeloid leukemia., [RefSeq, PubMed]; Spatial and Temporal Expression of High-Mobility-Group Nucleosome-Binding (HMGN) Genes in Brain Areas Associated with Cognition in Individuals with Down Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; The structure of the HMGN5 gene and the known properties of the HMGN5 protein, are described. Review article, [RefSeq, PubMed]; This gene encodes a nuclear protein with similarities to the high mobility group proteins, HMG14 and HMG17, which suggests that this protein may function as a nucleosomal binding and transcriptional activating protein. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5JSL1", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0031492 nucleosomal DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0043066 negative regulation of apoptotic process;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P82970-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96P69-1", "uniprot_id": [ { "id": "GPR78_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96P69", "type": "external" } ], "mass": 39332.0, "length": 363, "protein_name": "G protein-coupled receptor 78", "gene_name": "GPR78", "organism": "Human", "refseq_name": "G-protein coupled receptor 78", "refseq_ac": [ { "id": "NP_543009", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543009", "type": "external" } ], "gene_names_uniprotkb": "GPR78; PRO19818", "gene_names_refseq": "GPR78", "protein_names_uniprotkb": "G protein-coupled receptor 78", "protein_names_refseq": "G-protein coupled receptor 78", "tax_id": 9606, "disease": "", "pathway": " (hsa:27201)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;11574155;12975309;16389273;17363172;27697106;28416388;31413261;32387766;35051231;36652502;36925047;38253038", "class_list": "", "function": "Association of G protein-coupled receptor 78 with salivary dysfunction in male Sjogren's patients., [RefSeq, PubMed]; COLEC10 Induces Endoplasmic Reticulum Stress by Occupying GRP78 and Inhibits Hepatocellular Carcinoma., [RefSeq, PubMed]; Knockdown of GPR78 in lung cancer cells suppressed cell migration and GPR78 modulated the formation of actin stress fibers in A549 cells, in a RhoA- and Rac1-dependent manner., [RefSeq, PubMed]; Orphan receptor. Displays a significant level of constitutive activity. Its effect is mediated by G(s)-alpha protein that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP., [UniProtKB, PubMed]; Rs7676745, located near GPR78, associates with lower odds of surviving to the 90th percentile age. [Meta-analysis] Erratum:[Nat Commun. 2021 Apr 23;12(1):2463. doi: 10.1038/s41467-021-22613-2. PMID: 33893282] Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the G protein-coupled receptor family, which contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. This is an orphan receptor, which displays significant level of constitutive activity. Association analysis shows preliminary evidence for the involvement of this gene in susceptibility to bipolar affective disorder and schizophrenia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; Two haplotypes remained significant in both the female bipolar affective disorder individuals and in the full sample of affected female individuals. Results provide preliminary evidence for involvement of GPR78 in susceptibility to BPAD and SCZ. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; We reveal distinct binding affinities between the binary and ternary complexes thus formed, that suggest a preference for the PERK signaling branch under stress, and a predilection for the GRP78-UPR sensor complex formation upon stressor removal. These results imply a gated UPR mechanism that tunes the overall cellular behavior to the accumulation of unfolded proteins. Erratum:[Biochem Biophys Res Commun. 2017 Aug 12;490(1):69. doi: 10.1016/j.bbrc.2017.06.004. PMID: 28601239], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8NGV3", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96P69-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBF1-1", "uniprot_id": [ { "id": "GLIS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBF1", "type": "external" } ], "mass": 65976.0, "length": 620, "protein_name": "Zinc finger protein GLIS1", "gene_name": "GLIS1", "organism": "Human", "refseq_name": "zinc finger protein GLIS1 isoform 1", "refseq_ac": [ { "id": "NP_671726", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_671726", "type": "external" } ], "gene_names_uniprotkb": "GLIS1", "gene_names_refseq": "GLIS1", "protein_names_uniprotkb": "Zinc finger protein GLIS1; GLI-similar 1", "protein_names_refseq": "GLI-similar 1; zinc finger protein GLIS1 isoform 1; zinc finger protein GLIS1", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:148979)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;16417217;21654807;28228285;28750082;32157095;32699115;33154575;33968037;33981976;35051231;35216340;35580925;38157104", "class_list": "", "function": "Acts both as a repressor and an activator of transcription (PubMed:21654807). Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity). By controlling the expression of genes involved in cell differentiation inhibits the lineage commitment of multipotent cells (PubMed:21654807). Prevents, for instance, the differentiation of multipotent mesenchymal cells into adipocyte and osteoblast (By similarity)., [UniProtKB, UniProtKB, PubMed]; Effect of GLIS1 on the Lymph Node Metastasis of Cervical Squamous Carcinoma Based on Transcriptome Analysis., [RefSeq, PubMed]; Elevating microRNA-1-3p shuttled by cancer-associated fibroblasts-derived extracellular vesicles suppresses breast cancer progression and metastasis by inhibiting GLIS1., [RefSeq, PubMed]; GLIS1 in Cancer-Associated Fibroblasts Regulates the Migration and Invasion of Ovarian Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008]., [RefSeq]; Gene of the month: GLIS1-3., [RefSeq, PubMed]; Transcriptional factor Glis1 is involved in the regulation of aberrant differentiation observed in psoriatic epidermis., [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": 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": "Q2M3G9;Q8N9V9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO: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:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8NBF1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15760-1", "uniprot_id": [ { "id": "GPR19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15760", "type": "external" } ], "mass": 47687.0, "length": 415, "protein_name": "Probable G protein-coupled receptor 19", "gene_name": "GPR19", "organism": "Human", "refseq_name": "probable G-protein coupled receptor 19", "refseq_ac": [ { "id": "NP_006134", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006134", "type": "external" } ], "gene_names_uniprotkb": "GPR19", "gene_names_refseq": "GPR19", "protein_names_uniprotkb": "Probable G protein-coupled receptor 19; GPR-NGA", "protein_names_refseq": "GPR-NGA; probable G-protein coupled receptor 19", "tax_id": 9606, "disease": "", "pathway": " (hsa:2842)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;22912338;28476646;32350084;37239845;37923782;8830667", "class_list": "", "function": "Expression of G protein-coupled receptor GPR19 in normal and neoplastic human tissues. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor 19 (GPR19) was found frequently overexpressed in tissue samples obtained from patients with small cell lung cancer., [RefSeq, PubMed]; G protein-coupled receptor that plays a role in the regulation of circadian rhythms and energy metabolism. Participates in maintaining proper circadian gene expression in the suprachiasmatic nucleus (SCN), the locus of the master circadian clock in the brain (By similarity). May function as a coordinator of aging-associated metabolic dysfunction, stress response, DNA integrity management, and eventual senescence (PubMed:37239845). Upon binding to adropin, modulates mitochondrial energy metabolism via the p44/42-PDK4 signaling pathway, influencing pyruvate dehydrogenase activity (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; GPR19 Coordinates Multiple Molecular Aspects of Stress Responses Associated with the Aging Process. Publication Status: Online-Only, [RefSeq, PubMed]; GPR19 overexpression drives MDA-MB-231 cells towards an epithelial phenotype. GPR19 upregulates E-cadherin via MAPK/ERK1/2 pathway., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q15760-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35367-1", "uniprot_id": [ { "id": "HRH1_HUMAN", "url": "https://www.uniprot.org/uniprot/P35367", "type": "external" } ], "mass": 55784.0, "length": 487, "protein_name": "Histamine H1 receptor", "gene_name": "HRH1", "organism": "Human", "refseq_name": "histamine H1 receptor", "refseq_ac": [ { "id": "NP_000852", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000852", "type": "external" } ], "gene_names_uniprotkb": "HRH1", "gene_names_refseq": "H1-R; H1R; HH1R; HRH1; hisH1", "protein_names_uniprotkb": "Histamine H1 receptor; H1-R; H1R; HH1R", "protein_names_refseq": "histamine H1 receptor; histamine receptor, subclass H1", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:3269); (R-HSA-390650); (R-HSA-416476)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10.1101/2023.09.13.557529;10101032;10191087;10347254;10567430;10633171;10727532;10861009;11015615;11118334;11237011;11742120;11753430;12069903;12120503;15014171;15107581;15328002;15951850;16182515;16268778;16339447;16754659;16923326;16959974;17005916;1714721;18157166;18434541;18515384;18577758;18669648;18691976;18936096;1905813;21036230;2155607;21697825;23186163;24715725;2553705;2841328;29557506;30429286;30833945;3086311;31154438;31848261;32162841;32488085;32983136;33592498;33828102;33968037;34171305;34357683;35051231;35561310;36284347;37340703;37977823;38542369;38953634;4401751;6120235;7925364;7937899;8003029;8280179;8664309;9305846;9770463", "class_list": "", "function": "G protein-coupled receptor for histamine, a biogenic amine that functions as an immune modulator and a neurotransmitter (PubMed:33828102, PubMed:8280179). Through the H1 receptor, histamine mediates the contraction of smooth muscles and increases capillary permeability due to contraction of terminal venules. Also mediates neurotransmission in the central nervous system and thereby regulates circadian rhythms, emotional and locomotor activities as well as cognitive functions (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Histamine H1 Receptor-Mediated JNK Phosphorylation Is Regulated by Gq Protein-Dependent but Arrestin-Independent Pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. It has been associated with multiple processes, including memory and learning, circadian rhythm, and thermoregulation. It is also known to contribute to the pathophysiology of allergic diseases such as atopic dermatitis, asthma, anaphylaxis and allergic rhinitis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2015]., [RefSeq]; Pharmacological Characterization of the Zebrafish (Danio Rerio) Histamine H1 Receptor Reveals the Involvement of the Second Extracellular Loop in the Binding of Histamine. Publication Status: Online-Only, [RefSeq, PubMed]; The histamine receptor H1 acts as an alternative receptor for SARS-CoV-2., [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": 19, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 24, "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": "A8K047;Q6P9E5", "ec_number_list": [], "go_molecular_function": "GO:0004969 histamine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse", "go_biological_process": "GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission;GO:0045907 positive regulation of vasoconstriction", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "P35367-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78318-1", "uniprot_id": [ { "id": "IGBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P78318", "type": "external" } ], "mass": 39222.0, "length": 339, "protein_name": "Immunoglobulin-binding protein 1", "gene_name": "IGBP1", "organism": "Human", "refseq_name": "immunoglobulin-binding protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001542", "type": "external" } ], "gene_names_uniprotkb": "IGBP1; IBP1", "gene_names_refseq": "ALPHA-4; IBP1; IGBP1; MRXS28; alpha4", "protein_names_uniprotkb": "Immunoglobulin-binding protein 1; B-cell signal transduction molecule alpha 4; CD79a-binding protein 1; Protein alpha-4; Protein phosphatase 2/4/6 regulatory subunit; Renal carcinoma antigen NY-REN-16", "protein_names_refseq": "B cell signal transduction molecule alpha 4; CD79a-binding protein 1; bA351K23.1 (immunoglobulin binding protein 1 (CD79A)); immunoglobulin (CD79A) binding protein 1; immunoglobulin-binding protein 1 isoform 1; protein alpha-4; protein phosphatase 2/4/6 regulatory subunit; protein phosphatase 2A, regulatory subunit alpha-4; renal carcinoma antigen NY-REN-16", "tax_id": 9606, "disease": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (Disease Ontology:DOID:0060816)", "pathway": " (hsa:3476)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "10508479;11806752;14556245;19608861;19818709;20092282;22613722;22706990;22898188;23301498;23481700;23591866;24714562;24715725;25418920;25576301;25645385;26375851;26728094;26992070;27600516;27846572;27920218;28228285;28446606;28514659;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30315122;30524438;30779550;30833945;31092671;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;35051231;35580925;36010968;36215666;36241641;36284347;38665916;40307207;9441740;9647778", "class_list": "", "function": "Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiquitination until they associate with regulatory subunits., [UniProtKB, PubMed, PubMed]; The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8TAB2", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0051721 protein phosphatase 2A binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0035303 regulation of dephosphorylation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0034612 response to tumor necrosis factor;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "P78318-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15496-1", "uniprot_id": [ { "id": "PA2GX_HUMAN", "url": "https://www.uniprot.org/uniprot/O15496", "type": "external" } ], "mass": 18153.0, "length": 165, "protein_name": "Group 10 secretory phospholipase A2", "gene_name": "PLA2G10", "organism": "Human", "refseq_name": "group 10 secretory phospholipase A2 preproprotein", "refseq_ac": [ { "id": "NP_003552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003552", "type": "external" } ], "gene_names_uniprotkb": "PLA2G10", "gene_names_refseq": "GXPLA2; GXSPLA2; PLA2G10; SPLA2; sPLA2-X", "protein_names_uniprotkb": "Group 10 secretory phospholipase A2; 3.1.1.4; GX sPLA2; Group X secretory phospholipase A2; Phosphatidylcholine 2-acylhydrolase 10; sPLA2-X", "protein_names_refseq": "group 10 secretory phospholipase A2 preproprotein; group 10 secretory phospholipase A2; group X secretory phospholipase A2; phosphatidylcholine 2-acylhydrolase 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:8399); (R-HSA-1482788); (R-HSA-1482801); (R-HSA-1482839); (R-HSA-1482922); (R-HSA-1482925); (R-HSA-1483166)", "pathway_count": 7, "publication_count": 104, "publication_id_list": "10085124;10092647;10196188;10336645;10358058;10455175;10506173;10553003;10681567;11031251;11112443;11237011;11694541;11741884;11788596;11830583;12021277;12063250;12150957;12161451;12359733;12522102;12963729;14573790;14709560;15367102;15485873;15695510;15863501;15944408;16146426;1618844;16243729;16460752;16495223;16617059;16620771;16704971;16818490;16864775;16962371;17028579;17101204;17170135;17182612;17707131;18094042;18195019;18238778;18287005;18452278;18458083;18614531;18718904;18772128;18781350;19019078;1904318;19336658;19351971;19501189;19554302;19666841;20025994;20705608;21173190;21220512;21266581;21515882;22605381;22777291;22825852;22906437;22922100;23176821;23176823;23807634;23934110;24966474;25286228;26206935;26463208;26503625;26711011;28411811;2925608;2925633;3458202;35231479;38669316;7060561;7821823;8083230;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9417066;9461603;9582313;9705332", "class_list": "", "function": "Circulating human neutrophils express groups V and X sPLA(2) (GV and GX sPLA(2)) mRNA and contain GV and GX sPLA(2) proteins, whereas GIB, GIIA, GIID, GIIE, GIIF, GIII, and GXII sPLA(2)s are undetectable, [RefSeq, PubMed]; PLA2G10 incorporated in exosomes could be diagnostic and prognostic biomarker for non-small cell lung cancer., [RefSeq, PubMed]; Secretory calcium-dependent phospholipase A2 that primarily targets extracellular phospholipids (PubMed:12021277, PubMed:9188469). Hydrolyzes the ester bond of the fatty acyl group attached at sn-2 position of phospholipids with preference for phosphatidylcholines and phosphatidylglycerols over phosphatidylethanolamines. Preferentially releases sn-2 omega-6 and omega-3 polyunsaturated fatty acyl (PUFA) chains over saturated fatty acyls (PubMed:12021277, PubMed:12359733). Contributes to phospholipid remodeling of very low-density lipoprotein (VLDL), low-density lipoprotein (LDL) and high-density lipoprotein (HDL) particles (PubMed:12021277). Hydrolyzes LDL phospholipids releasing unsaturated fatty acids that regulate macrophage differentiation toward foam cells (PubMed:12021277). Efficiently hydrolyzes and inactivates platelet activating factor (PAF), a potent lipid mediator present in oxidized LDL (PubMed:16962371). May act in an autocrine and paracrine manner. Secreted by lung epithelium, targets membrane phospholipids of infiltrating eosinophils, releasing arachidonate and boosting eicosanoid and cysteinyl leukotriene synthesis involved in airway inflammatory response (By similarity). Secreted by gut epithelium, hydrolyzes dietary and biliary phosphatidylcholines in the gastrointestinal lumen (By similarity). Plays a stem cell regulator role in colon epithelium. Within intracellular compartment, mediates Paneth-like cell differentiation and its stem cell supporting functions by inhibiting the Wnt signaling pathway in intestinal stem cell (ISC). Secreted in the intestinal lumen upon inflammation, acts in an autocrine way and promotes prostaglandin E2 synthesis that stimulates Wnt signaling pathway in ISCs and tissue regeneration (By similarity). May participate in hair follicle morphogenesis by regulating phosphatidylethanolamines metabolism at the outermost epithelial layer and facilitating melanin synthesis (By similarity). By releasing lysophosphatidylcholines (LPCs) at sperm acrosome, controls sperm cell capacitation, acrosome reaction and overall fertility (By similarity). May promote neurite outgrowth in neuron fibers involved in nociception (By similarity). Contributes to lipid remodeling of cellular membranes and generation of lipid mediators involved in pathogen clearance. Cleaves sn-2 fatty acyl chains of phosphatidylglycerols and phosphatidylethanolamines, which are major components of membrane phospholipids in bacteria (PubMed:12359733). Displays bactericidal activity against Gram-positive bacteria by directly hydrolyzing phospholipids of the bacterial membrane (PubMed:11694541). In pulmonary epithelium, may contribute to host defense response against adenoviral infection. Prevents adenovirus entry into host cells by hydrolyzing host cell plasma membrane, releasing C16:0 LPCs that inhibit virus-mediated membrane fusion and viral infection. Likely prevents adenoviral entry into the endosomes of host cells (PubMed:16146426). May play a role in maturation and activation of innate immune cells including macrophages, group 2 innate lymphoid cells and mast cells (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Studies indicate that the expression of secreted phospholipases A2 (sPLA2s), most notably the group IIA, III and X enzymes, is dysregulated in various malignant tissues., [RefSeq, PubMed]; This gene encodes a member of the phospholipase A2 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This calcium-dependent enzyme hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids. In one example, this enzyme catalyzes the release of arachidonic acid from cell membrane phospholipids, thus playing a role in the production of various inflammatory lipid mediators, such as prostaglandins. The encoded protein may promote the survival of breast cancer cells through its role in lipid metabolism. [provided by RefSeq, Nov 2015]., [RefSeq]; Up-regulated PLA2G10 in cancer impairs T cell infiltration to dampen immunity., [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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q14DU3;Q6NT23", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.1.23", "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": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "2.3.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.149", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0004620 phospholipase activity;GO:0005509 calcium ion binding;GO:0004623 phospholipase A2 activity;GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005764 lysosome;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:2000344 positive regulation of acrosome reaction;GO:0046473 phosphatidic acid metabolic process;GO:0034638 phosphatidylcholine catabolic process;GO:0051977 lysophospholipid transport;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "O15496-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95838-1", "uniprot_id": [ { "id": "GLP2R_HUMAN", "url": "https://www.uniprot.org/uniprot/O95838", "type": "external" } ], "mass": 63001.0, "length": 553, "protein_name": "Glucagon-like peptide 2 receptor", "gene_name": "GLP2R", "organism": "Human", "refseq_name": "glucagon-like peptide 2 receptor", "refseq_ac": [ { "id": "NP_004237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004237", "type": "external" } ], "gene_names_uniprotkb": "GLP2R", "gene_names_refseq": "GLP2R", "protein_names_uniprotkb": "Glucagon-like peptide 2 receptor; GLP-2 receptor; GLP-2-R; GLP-2R", "protein_names_refseq": "GLP-2 receptor; epididymis secretory sperm binding protein; glucagon-like peptide 2 receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:9340); (R-HSA-418555); (R-HSA-420092)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "10322410;10698200;11007482;11060443;11237011;11946536;12036966;12058044;12106601;12180353;12860470;1333056;13549488;14671004;1517224;15464082;15471943;15765929;15769620;15951850;16313925;16687412;16923326;17168849;1739432;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;2553411;2553705;26417854;2826231;2871555;29443750;29602314;30409537;30484775;30833991;3127824;31279028;31399091;31983287;32161166;32191643;32226383;32387766;32488085;32497535;32540603;32618402;32715661;33049737;33239759;33544567;34171305;34174312;35051231;38253038;3899557;6085243;6192430;6745415;7589426;7680413;7700244;7811244;7902709;8144028;8340388;8390245;8514797;8672451;9263355;9417641;9651336;9990065", "class_list": "", "function": "A unique hormonal recognition feature of the human glucagon-like peptide-2 receptor., [RefSeq, PubMed]; Epicardial, pericardial fat and glucagon-like peptide-1 and -2 receptors expression in stable patients with multivessel coronary artery disease: an association with the renin-angiotensin-aldosterone system., [RefSeq, PubMed]; Expression, purification and molecular dynamics simulation of extracellular domain of glucagon-like peptide-2 receptor linked to teduglutide., [RefSeq, PubMed]; Glucagon-like peptide-2 receptor is coupled to regulation of apoptosis and ERK1/2 activation through divergent signaling pathways, [RefSeq, PubMed]; Loss of Glp2r signaling activates hepatic stellate cells and exacerbates diet-induced steatohepatitis in mice. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a G protein-coupled receptor closely related to the glucagon receptor that binds glucagon-like peptide 2 (GLP-2). Activation of this gene stimulates intestinal growth by increasing villus height, enhancing crypt cell proliferation, and reducing enterocyte apoptosis, thereby promoting nutrient absorption and maintaining gut barrier integrity. Glucagon like protein 2 receptor signaling also regulates intestinal blood flow, supports mucosal healing after injury, and modulates gut hormone secretion. In addition, it has been implicated in metabolic homeostasis and may influence energy balance and glucose metabolism. Dysregulation of this receptor or its signaling pathways is associated with intestinal disorders, including short bowel syndrome and inflammatory bowel disease. This receptor is a potential therapeutic target for enhancing intestinal regeneration and treating gastrointestinal diseases. [provided by RefSeq, Mar 2026]., [RefSeq]; This is a receptor for glucagon-like peptide 2. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase., [UniProtKB]; This is the first evidence of abnormal gene expression of GLP-1R and GLP-2R in postmortem brain of individuals with Mood Disorder., [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": 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": 22, "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": "Q4VAT3", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0017046 peptide hormone binding;GO:0004967 glucagon receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "O95838-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00461-1", "uniprot_id": [ { "id": "GOLI4_HUMAN", "url": "https://www.uniprot.org/uniprot/O00461", "type": "external" } ], "mass": 81880.0, "length": 696, "protein_name": "Golgi integral membrane protein 4", "gene_name": "GOLIM4", "organism": "Human", "refseq_name": "Golgi integral membrane protein 4 isoform 1", "refseq_ac": [ { "id": "NP_055313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055313", "type": "external" } ], "gene_names_uniprotkb": "GOLIM4; GIMPC; GOLPH4; GPP130", "gene_names_refseq": "GIMPC; GOLIM4; GOLPH4; GPP130; P138", "protein_names_uniprotkb": "Golgi integral membrane protein 4; GIMPc; Golgi integral membrane protein, cis; Golgi phosphoprotein 4; Golgi phosphoprotein of 130 kDa; Golgi-localized phosphoprotein of 130 kDa", "protein_names_refseq": "130 kDa golgi-localized phosphoprotein; Golgi integral membrane protein 4 isoform 1; cis Golgi-localized calcium-binding protein; golgi integral membrane protein, cis; golgi phosphoprotein 4; golgi phosphoprotein of 130 kDa; golgi-localized phosphoprotein of 130 kDa; type II Golgi membrane protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:27333); (R-HSA-6811438)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10189370;10652308;10652516;11237011;11598199;11718716;11748249;12011112;12207053;12383348;12429822;15331763;15504911;15718469;15728195;15758030;16959974;17081983;17274799;18086915;18256213;18292551;18451304;18452278;18512783;19164740;19536132;19715559;20163571;20874812;21654843;21807881;22013193;22188167;23091056;23239882;23378023;23462996;23584533;23839779;23936529;23940353;24119662;24190977;24275569;25255805;25502872;25576301;25708460;25813380;28649982;28768823;28871256;28904123;29242379;29393594;29557506;29632711;29789417;30459171;31020640;31217245;31611695;31844290;32350084;32938616;32983136;33592498;33722196;33912179;33968037;34078123;34180133;34357683;34433824;35051231;35251023;35494241;36054164;36215666;36284347;37074911;8636227;8945478;9201717;9244307;9476900;9510256;9653114;9707577;9915833", "class_list": "", "function": "Authors provide evidence that Mn-induced exit of GPP130 from the trans-Golgi network (TGN) toward lysosomes is mediated by the sorting receptor sortilin interacting with the lumenal stem domain of GPP130., [RefSeq, PubMed]; Both the translation and transcription are regulated independent of the cell cycle and dissociated from the duplication of the centrosome, [RefSeq, PubMed]; CircRNA RNF10 inhibits tumorigenicity by targeting miR-942-5p/GOLIM4 axis in breast cancer., [RefSeq, PubMed]; MiR-105-3p acts as an oncogene to promote the proliferation and metastasis of breast cancer cells by targeting GOLIM4. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in endosome to Golgi protein trafficking; mediates protein transport along the late endosome-bypass pathway from the early endosome to the Golgi., [UniProtKB, PubMed]; RBFOX2/GOLIM4 Splicing Axis Activates Vesicular Transport Pathway to Promote Nasopharyngeal Carcinogenesis., [RefSeq, PubMed]; The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [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": 28, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 28, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 28, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 29, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005796 Golgi lumen;GO:0016020 membrane;GO:0010008 endosome membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "O00461-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15345-2", "uniprot_id": [ { "id": "LRC41_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15345", "type": "external" } ], "mass": 88650.0, "length": 812, "protein_name": "Leucine-rich repeat-containing protein 41", "gene_name": "LRRC41", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 41", "refseq_ac": [ { "id": "NP_006360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006360", "type": "external" } ], "gene_names_uniprotkb": "LRRC41; MUF1; PP7759", "gene_names_refseq": "LRRC41; MUF1; PP7759", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 41; Protein Muf1", "protein_names_refseq": "MUF1 protein (MUF1); elongin BC-interacting leucine-rich repeat protein; leucine-rich repeat-containing protein 41; protein Muf1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10489); (R-HSA-8951664); (R-HSA-9706019); (R-HSA-983168)", "pathway_count": 4, "publication_count": 213, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11384984;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15498874;15537541;15571818;15572695;15574592;15601820;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17081983;17132228;17183367;17220875;17332328;17497243;17525332;17785452;18077418;18093314;18206966;18662542;18669648;18775313;18776931;18805092;18826954;18851830;18926707;19019082;19028597;19250909;19321346;19352404;19452197;19489725;19490898;19617556;19651622;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22245496;22306028;22466964;22537386;2261476;22709582;22959436;23186163;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24029068;24076655;24145166;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25576301;25645385;25892735;26154972;26215701;26344709;26375851;26460955;26632597;26811146;26906416;26992070;27030794;27222660;27565346;27600516;27846572;27920218;28063628;28115426;28218747;28228285;28446606;28832583;28834231;28904123;29153394;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30484775;30524438;30610225;31092671;31154438;31217245;31844290;31848261;31998317;32005965;32157095;32161166;32284348;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33444648;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34211107;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36241641;37938771;39531497;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Probable substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins., [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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K5G8;Q3MJ96;Q5TDF5;Q71RA8;Q9BSM0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 21.7, "record_id": "Q15345-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49137-1", "uniprot_id": [ { "id": "MAPK2_HUMAN", "url": "https://www.uniprot.org/uniprot/P49137", "type": "external" } ], "mass": 45568.0, "length": 400, "protein_name": "MAP kinase-activated protein kinase 2", "gene_name": "MAPKAPK2", "organism": "Human", "refseq_name": "MAP kinase-activated protein kinase 2 isoform 1", "refseq_ac": [ { "id": "NP_004750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004750", "type": "external" } ], "gene_names_uniprotkb": "MAPKAPK2", "gene_names_refseq": "MAPKAP-K2; MAPKAPK2; MK-2; MK2", "protein_names_uniprotkb": "MAP kinase-activated protein kinase 2; 2.7.11.1; MAPK-activated protein kinase 2; MAPKAP kinase 2; MAPKAP-K2; MAPKAPK-2; MK-2; MK2", "protein_names_refseq": "MAP kinase-activated protein kinase 2 isoform 1; MAP kinase-activated protein kinase 2; MAPKAP kinase 2; mitogen-activated protein kinase-activated protein kinase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9261); (R-HSA-171007); (R-HSA-199920); (R-HSA-2142691); (R-HSA-2559580); (R-HSA-3371453); (R-HSA-4420097); (R-HSA-450302); (R-HSA-450385); (R-HSA-450513); (R-HSA-5357905)", "pathway_count": 11, "publication_count": 365, "publication_id_list": "10037737;10064732;10075701;10207622;10330172;10347217;10383393;10395673;10521396;10677529;10692392;10722742;10744763;10749680;10772813;10779545;10837247;10871633;10954706;11007481;11098060;11181075;11278486;11427719;11564866;11577081;11695992;11696015;11719186;11747420;11844797;12134156;12134158;12167698;12171911;12189133;12193592;12198173;12214271;12215529;12324455;12391143;12414794;12421820;12435631;12456657;12464388;12565831;12639954;12646273;12660731;12705825;12709429;12748283;12791252;12808055;12810700;12820653;12853476;12917326;12974469;13130464;1359745;14499342;14507994;14517288;14532106;14688255;14716293;14724572;14976220;15014438;15024054;15026417;15094067;15117938;15247219;15258597;15287722;15308668;15364926;15538381;15563468;15604543;15629715;15687258;15688067;15695828;15802566;15837794;15866172;1586970;15870263;15944294;15962004;16186825;16262601;16278218;16336962;16337592;16436515;16456544;16682944;16760434;16795963;16826196;16829951;16829952;16966330;17030608;17030947;17133347;17199126;17210787;17237347;17254968;17255097;17287340;17293873;17314102;17332741;17344414;17344846;17369404;17395714;17449059;17480064;17481585;1754405;17576063;17686471;17702576;17765224;17825402;17875933;18021073;18178551;18184802;18235501;18235502;18326031;18365017;18367721;18481987;1848634;18508601;18550409;18647347;18669648;18793328;19229036;19230644;19267251;19278658;19289468;19296855;19416807;19451217;19451218;19462008;19528227;19729507;19743890;19910467;19914676;20185725;20219915;20304918;20385093;20436887;20658524;20932473;21131586;21235526;21408173;21445309;21447318;21575178;21986495;22020331;22028470;22179575;22297296;22325352;22327215;22336108;22435550;22465953;22541429;22683641;22689825;22735644;22848449;22940245;23076889;23186163;23216836;23313255;23349863;23746843;24098568;24246475;24275569;24323043;24356814;24726323;24726327;25565632;25576301;25880248;26154972;26344099;26616734;26900751;26992070;26997266;27046942;27307491;27458237;2753893;27545878;27552911;27591049;27600516;2768222;28218747;28228285;2836406;28506461;28514659;2864155;2866075;2877850;2882965;28832583;28834231;28904123;28920952;28920954;29133059;29242379;29331515;29393594;29437277;29493099;29557506;29642005;29786170;29789417;2995393;3006030;30146158;3020588;30361438;30410026;30420664;30429286;30669;30988283;31154438;3118366;31366726;31511692;31530632;3164719;31844290;31848261;32157095;32161166;32265295;32296033;32320653;32350084;32357974;32409685;32488085;32647362;32897882;32938616;32983136;33469115;33592498;33691108;33912179;33936100;33968037;34162724;34272277;34357683;34363755;34559922;34876703;34932366;35051231;35129087;35251023;35318648;35494241;35580925;3563417;35941131;36010968;36284347;37938771;3933675;39894887;6122208;6293969;6490615;7509446;7531702;7535770;7551568;7585962;7588633;7592979;7667287;7816143;7859739;7937884;7972015;8001816;8052639;8078588;8093612;8179591;8259215;8280084;8319905;8394361;8533096;8576264;8617235;8622669;8622688;8626550;8652844;8721986;8741839;8774846;8846784;8946918;8974401;8986718;9030721;9049422;9065443;9099726;9162092;9182576;9195981;9305631;9393975;9398617;9461497;9472046;9529249;9564042;9628873;9628874;9768359;9770464;9824166;9873016;9920933", "class_list": "", "function": "MK2 degradation as a sensor of signal intensity that controls stress-induced cell fate., [RefSeq, PubMed]; Mitogen-activated protein kinase-activated protein kinase-2 (MK2) and its role in cell survival, inflammatory signaling, and migration in promoting cancer., [RefSeq, PubMed]; Regulation of CCR4-NOT complex deadenylase activity and cellular responses by MK2-dependent phosphorylation of CNOT2., [RefSeq, PubMed]; Stress-activated serine/threonine-protein kinase involved in cytokine production, endocytosis, reorganization of the cytoskeleton, cell migration, cell cycle control, chromatin remodeling, DNA damage response and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. Phosphorylates ALOX5, CDC25B, CDC25C, CEP131, ELAVL1, HNRNPA0, HSP27/HSPB1, KRT18, KRT20, LIMK1, LSP1, PABPC1, PARN, PDE4A, RCSD1, RPS6KA3, TAB3 and TTP/ZFP36. Phosphorylates HSF1; leading to the interaction with HSP90 proteins and inhibiting HSF1 homotrimerization, DNA-binding and transactivation activities (PubMed:16278218). Mediates phosphorylation of HSP27/HSPB1 in response to stress, leading to the dissociation of HSP27/HSPB1 from large small heat-shock protein (sHsps) oligomers and impairment of their chaperone activities and ability to protect against oxidative stress effectively. Involved in inflammatory response by regulating tumor necrosis factor (TNF) and IL6 production post-transcriptionally: acts by phosphorylating AU-rich elements (AREs)-binding proteins ELAVL1, HNRNPA0, PABPC1 and TTP/ZFP36, leading to the regulation of the stability and translation of TNF and IL6 mRNAs. Phosphorylation of TTP/ZFP36, a major post-transcriptional regulator of TNF, promotes its binding to 14-3-3 proteins and reduces its ARE mRNA affinity, leading to inhibition of dependent degradation of ARE-containing transcripts. Phosphorylates CEP131 in response to cellular stress induced by ultraviolet irradiation which promotes binding of CEP131 to 14-3-3 proteins and inhibits formation of novel centriolar satellites (PubMed:26616734). Also involved in late G2/M checkpoint following DNA damage through a process of post-transcriptional mRNA stabilization: following DNA damage, relocalizes from nucleus to cytoplasm and phosphorylates HNRNPA0 and PARN, leading to stabilization of GADD45A mRNA. Involved in toll-like receptor signaling pathway (TLR) in dendritic cells: required for acute TLR-induced macropinocytosis by phosphorylating and activating RPS6KA3., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 25, "reported_mutagensis": 12, "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": "Q5SY30;Q5SY41;Q8IYD6", "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": "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": "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": "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:0009931 calcium-dependent protein serine/threonine kinase activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006954 inflammatory response;GO:0032496 response to lipopolysaccharide;GO:0035556 intracellular signal transduction;GO:1900034 regulation of cellular response to heat;GO:0000165 MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 36.8, "record_id": "P49137-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M11-1", "uniprot_id": [ { "id": "HYLS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M11", "type": "external" } ], "mass": 34359.0, "length": 299, "protein_name": "Centriolar and ciliogenesis-associated protein HYLS1", "gene_name": "HYLS1", "organism": "Human", "refseq_name": "centriolar and ciliogenesis-associated protein HYLS1", "refseq_ac": [ { "id": "NP_001128265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128265", "type": "external" } ], "gene_names_uniprotkb": "HYLS1; HLS", "gene_names_refseq": "HLS; HYLS1", "protein_names_uniprotkb": "Centriolar and ciliogenesis-associated protein HYLS1; Hydrolethalus syndrome protein 1", "protein_names_refseq": "centriolar and ciliogenesis-associated protein HYLS1; hydrolethalus syndrome 1; hydrolethalus syndrome protein 1", "tax_id": 9606, "disease": "hydrolethalus syndrome (Disease Ontology:DOID:0050779); hydrolethalus syndrome 1 (Disease Ontology:DOID:0111355)", "pathway": " (hsa:219844)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "14654843;15843405;18648327;23186163;24397554;24715725;25418920;25576301;26375851;26830932;27846572;28514659;28832583;28834231;28904123;29242379;29393594;29557506;31217245;31844290;31848261;32938616;33298915;33717175;33912179;33936100;33968037;34212369;35051231;35580925", "class_list": "", "function": "Despite variation in the clinicopathologic phenotype, all cases in the series carried the same homozygous missense mutation in HYLS1, [RefSeq, PubMed]; Plays a role in ciliogenesis., [UniProtKB, UniProtKB, UniProtKB]; The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome., [RefSeq, PubMed]; The homozygous mutation of the hydrolethalus syndrome 1 gene (HYLS1) was identified in a consanguinity family in a 17 year old male and his 11 year old younger brother., [RefSeq, PubMed]; This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KXI8;Q96BX9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005929 cilium", "go_biological_process": "GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96M11-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20333-1", "uniprot_id": [ { "id": "TNR1B_HUMAN", "url": "https://www.uniprot.org/uniprot/P20333", "type": "external" } ], "mass": 48291.0, "length": 461, "protein_name": "Tumor necrosis factor receptor superfamily member 1B", "gene_name": "TNFRSF1B", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 1B precursor", "refseq_ac": [ { "id": "NP_001057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001057", "type": "external" } ], "gene_names_uniprotkb": "TNFRSF1B; TNFBR; TNFR2", "gene_names_refseq": "CD120b; TBPII; TNF-R-II; TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80; TNFRSF1B; p75TNFR; p75", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 1B; TBP-2; TBPII; TNF-R2; TNF-RII; TNFR-II; Tumor necrosis factor receptor 2; Tumor necrosis factor receptor type II; p75; p80 TNF-alpha receptor", "protein_names_refseq": "TNF-R2; TNF-RII; p75 TNF receptor; p80 TNF-alpha receptor; tumor necrosis factor beta receptor; tumor necrosis factor binding protein 2; tumor necrosis factor receptor 2; tumor necrosis factor receptor superfamily member 1B precursor; tumor necrosis factor receptor superfamily member 1B; tumor necrosis factor receptor type II", "tax_id": 9606, "disease": "cryptogenic organizing pneumonia (Disease Ontology:DOID:0050157); lupus nephritis (Disease Ontology:DOID:0080162); polymyositis (Disease Ontology:DOID:0080745); Parkinsonism (Disease Ontology:DOID:0080855); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); adult respiratory distress syndrome (Disease Ontology:DOID:11394); sciatic neuropathy (Disease Ontology:DOID:11446); osteoporosis (Disease Ontology:DOID:11476); pulmonary sarcoidosis (Disease Ontology:DOID:13406); endometrial cancer (Disease Ontology:DOID:1380); colon carcinoma (Disease Ontology:DOID:1520); ovarian cancer (Disease Ontology:DOID:2394); endometriosis (Disease Ontology:DOID:289); glomerulonephritis (Disease Ontology:DOID:2921); IgA glomerulonephritis (Disease Ontology:DOID:2986); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); tuberculosis (Disease Ontology:DOID:399); renal cell carcinoma (Disease Ontology:DOID:4450); ureteral obstruction (Disease Ontology:DOID:5199); pneumonia (Disease Ontology:DOID:552); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); acne (Disease Ontology:DOID:6543); ankylosing spondylitis (Disease Ontology:DOID:7147); end stage renal disease (Disease Ontology:DOID:783); extrinsic allergic alveolitis (Disease Ontology:DOID:841); Crohn's disease (Disease Ontology:DOID:8778); psoriasis (Disease Ontology:DOID:8893); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:7133); (R-HSA-5668541); (R-HSA-5669034); (R-HSA-6783783); (R-HSA-6785807); (R-HSA-6798695)", "pathway_count": 6, "publication_count": 237, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10023775;10074428;10092818;10206649;10219247;10359578;10369418;10398604;10415057;10433356;10484778;10510379;10586089;10597252;10615125;10797013;10867011;11058569;11084045;11104795;11120780;11197692;11278437;11278729;11356008;11404481;11463377;11571266;11762942;11882293;11911831;11960372;12161545;12189164;12223527;12242343;12370298;12554859;12600988;12626585;12832402;12949498;1328224;1460289;14634100;14656435;14688072;14712222;15084608;15116091;15261459;15356117;15470070;15584925;15805299;15869882;15919823;15950906;16007214;16048438;16107692;16205632;16236134;16397018;16451196;16501042;16510571;16540365;1655907;16606674;16982608;17427945;17458857;17572495;17632511;17636564;18243101;18353781;18447642;18491316;18571443;18606301;18635759;18644974;18997792;18997794;19124156;19185846;19397496;1940369;1940799;1966549;19815541;20032458;20145033;20222921;20307208;20493732;20510730;20979233;21081755;21091114;21102457;21252155;21300286;2153136;2160731;2166946;21689689;2172983;21730069;2173696;21937440;21994466;22046235;22197273;22205702;22383755;22664871;22693070;22801960;22851691;23086340;23124025;23172665;23186163;23455323;23481700;23555662;23584533;23650620;23967200;24070496;24097101;24715725;24743777;25152365;25234944;25456591;25502872;25576301;25609706;25813380;26154972;28832583;28904123;29242379;29314611;30315122;30429286;30459171;30524438;31611695;31844290;31998317;32350084;32502341;32897882;33141586;34357683;34433824;35051231;35154160;35251023;37217939;38474115;38537932;38865403;39033271;7510216;7512027;7512451;7516408;7529288;7543512;7544915;7593617;7594602;7639698;7684412;7687627;7795521;7796300;7898939;7902377;7907877;7913952;8015639;8063757;8069916;8085155;8102388;8120384;8120391;8163946;8186324;8301137;8384489;8521496;8537680;8602263;8621622;8661109;8662928;8663118;8668165;8692836;8702708;8734788;8742066;8797861;8816495;8871664;8871669;8897595;8910398;8921438;8946277;9013879;9013939;9247583;9312047;9354687;9449724;9535738;9550426;9651359;9723655;9736340;9794440;9822675;9836587;9874564;9878548;9918218", "class_list": "", "function": "Association of polymorphisms in the TNFA, TNFRSF1A and TNFRSF1B genes with lepromatous leprosy in Western Mexican patients. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor with high affinity for TNFSF2/TNF and approximately 5-fold lower affinity for homotrimeric TNFSF1/lymphotoxin-alpha. The TRAF1/TRAF2 complex recruits the apoptotic suppressors BIRC2 and BIRC3 to TNFRSF1B/TNFR2. This receptor mediates most of the metabolic effects of TNF. Isoform 2 blocks TNF-induced apoptosis, which suggests that it regulates TNF function by antagonizing its biological activity., [UniProtKB, PubMed]; TNFRSF1B Gene Variants in Clinicopathological Aspects and Prognosis of Patients with Cutaneous Melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]., [RefSeq]; Tumor Necrosis Factor Receptor-2 Signals Clear-Cell Renal Carcinoma Proliferation via Phosphorylated 4E Binding Protein-1 and Mitochondrial Gene Translation., [RefSeq, PubMed]; Tumor necrosis factor receptor 2 promotes endothelial cell-mediated suppression of CD8+ T cells through tuning glycolysis in chemoresistance of breast 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": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 4, "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": 1, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 33, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B1AJZ3;Q16042;Q6YI29;Q9UIH1", "ec_number_list": [], "go_molecular_function": "GO:0043120 tumor necrosis factor binding;GO:0031625 ubiquitin protein ligase binding;GO:0005031 tumor necrosis factor receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0035579 specific granule membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0002718 regulation of cytokine production involved in immune response;GO:0006954 inflammatory response;GO:0048714 positive regulation of oligodendrocyte differentiation;GO:0051044 positive regulation of membrane protein ectodomain proteolysis;GO:0071222 cellular response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 25.5, "record_id": "P20333-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q1A5X7-1", "uniprot_id": [ { "id": "WHAL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q1A5X7", "type": "external" } ], "mass": 18091.0, "length": 153, "protein_name": "Putative WASP homolog-associated protein with actin, membranes and microtubules-like protein 1", "gene_name": "WHAMMP3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "WHAMMP3; WHAMML1; WHDC1L1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative WASP homolog-associated protein with actin, membranes and microtubules-like protein 1; WAS protein homolog associated with actin, Golgi membranes and microtubules pseudogene 3; WAS protein homology region 2 domain-containing protein 1-like protein 1; WH2 domain-containing protein 1-like protein 1; WHDC1-like protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "18226259;23481700;32350084;35251023", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q1A5X8;Q52M16;Q52M18", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q1A5X7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14778-1", "uniprot_id": [ { "id": "IL1R1_HUMAN", "url": "https://www.uniprot.org/uniprot/P14778", "type": "external" } ], "mass": 65402.0, "length": 569, "protein_name": "Interleukin-1 receptor type 1", "gene_name": "IL1R1", "organism": "Human", "refseq_name": "interleukin-1 receptor type 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001275635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275635", "type": "external" } ], "gene_names_uniprotkb": "IL1R1; IL1RA; IL1RT1; IL1R", "gene_names_refseq": "CD121A; CRMO3; D2S1473; IL-1R-alpha; IL-1RT1; IL1R1; IL1RA; IL1R; P80", "protein_names_uniprotkb": "Interleukin-1 receptor type 1; 3.2.2.6; CD121 antigen-like family member A; IL-1R-1; IL-1R-alpha; IL-1RT-1; IL-1RT1; Interleukin-1 receptor alpha; Interleukin-1 receptor type I; p80", "protein_names_refseq": "CD121 antigen-like family member A; interleukin 1 receptor alpha, type I; interleukin-1 receptor alpha; interleukin-1 receptor type 1 isoform 2 precursor; interleukin-1 receptor type I", "tax_id": 9606, "disease": "chronic recurrent multifocal osteomyelitis (Disease Ontology:DOID:0060645); COVID-19 (Disease Ontology:DOID:0080600); cholesteatoma of middle ear (Disease Ontology:DOID:10964); pulpitis (Disease Ontology:DOID:11121); severe acute respiratory syndrome (Disease Ontology:DOID:2945); systemic scleroderma (Disease Ontology:DOID:418); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:3554); (R-HSA-6783783); (R-HSA-9020702); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 133, "publication_id_list": "10.1101/2023.09.13.557529;10075690;10087012;10092818;10415057;10433356;10514433;10581079;10653850;10671496;10702308;10854325;10882101;10903327;10918611;11094434;11237011;11960013;12496252;12538665;12554859;12626585;12791687;12832402;12860405;1460289;14625308;15917247;15919823;16115318;16522641;16982608;17135271;17141195;17507369;17662961;17675297;17890055;17924679;17997719;18070982;18180283;1828071;1833184;18438411;19264966;1940369;1940799;19903815;20145033;20223979;2139180;2147937;22401777;22552008;22814904;23090970;23641311;24190977;24272870;24584101;24743777;2530587;2532321;25801024;26002965;27466718;28425720;2946959;2950091;29945920;30201761;31048504;32350084;32357974;32938616;34357683;35051231;37198429;37315560;37634084;37733448;38459193;38640835;7510216;7512027;7512451;7516408;7543512;7593617;7594602;7628694;7684412;7687627;7902377;7989776;8063757;8102388;8120391;8142597;8163946;8186324;8301137;8327496;8332913;8537680;8599092;8662928;8734788;8742066;8837778;8871669;8897595;8910398;8921438;8946277;9013939;9062193;9062194;9312047;9346484;9354687;9371760;9430229;9449724;9550426;9794440;9821957;9836587;9859996;9918218;9990852;9990853", "class_list": "", "function": "A paracrine circuit of IL-1beta/IL-1R1 between myeloid and tumor cells drives genotype-dependent glioblastoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; ANGPTL3 negatively regulates IL-1beta-induced NF-kappaB activation by inhibiting the IL1R1-associated signaling complex assembly., [RefSeq, PubMed]; Enhanced fear memory after social defeat in mice is dependent on interleukin-1 receptor signaling in glutamatergic neurons., [RefSeq, PubMed]; IL-1 receptor 1 signaling shapes the development of viral antigen-specific CD4[+] T cell responses following COVID-19 mRNA vaccination., [RefSeq, PubMed]; Receptor for IL1A, IL1B and IL1RN (PubMed:2950091, PubMed:37315560). After binding to interleukin-1 associates with the coreceptor IL1RAP to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B, MAPK and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Binds ligands with comparable affinity and binding of antagonist IL1RN prevents association with IL1RAP to form a signaling complex. Involved in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells (PubMed:10653850)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Receptor for IL1A, IL1B and IL1RN. After binding to interleukin-1 associates with the coreceptor IL1RAP to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B, MAPK and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Binds ligands with comparable affinity and binding of antagonist IL1RN prevents association with IL1RAP to form a signaling complex. Involved in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells., [UniProtKB, UniProtKB, UniProtKB]; The role of genetic polymorphisms of interleukin-1 (IL-1R1 and IL-1RN) in primary knee osteoarthritis in Indonesia. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q587I7", "ec_number_list": [ { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.4.99.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.20", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "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:0002020 protease binding;GO:0004888 transmembrane signaling receptor activity;GO:0019966 interleukin-1 binding;GO:0004908 interleukin-1 receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0014805 smooth muscle adaptation;GO:0070498 interleukin-1-mediated signaling pathway;GO:2000660 negative regulation of interleukin-1-mediated signaling pathway;GO:0006954 inflammatory response;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "P14778-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20701-1", "uniprot_id": [ { "id": "ITAL_HUMAN", "url": "https://www.uniprot.org/uniprot/P20701", "type": "external" } ], "mass": 128770.0, "length": 1170, "protein_name": "Integrin alpha-L", "gene_name": "ITGAL", "organism": "Human", "refseq_name": "integrin alpha-L isoform b precursor", "refseq_ac": [ { "id": "NP_001107852", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107852", "type": "external" } ], "gene_names_uniprotkb": "ITGAL; CD11A", "gene_names_refseq": "CD11A; EV6; HNA-5; ITGAL; LFA-1; LFA1A", "protein_names_uniprotkb": "Integrin alpha-L; CD11 antigen-like family member A; LFA-1A; Leukocyte adhesion glycoprotein LFA-1 alpha chain; Leukocyte function-associated molecule 1 alpha chain", "protein_names_refseq": "CD11 antigen-like family member A; LFA-1 alpha; LFA-1A; alpha polypeptide); antigen CD11A (p180), lymphocyte function-associated antigen 1, alpha polypeptide; human neutrophil antigen 5; integrin alpha-L isoform b precursor; integrin alpha-L; integrin gene promoter; integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; leukocyte adhesion glycoprotein LFA-1 alpha chain; leukocyte function-associated molecule 1 alpha chain", "tax_id": 9606, "disease": "nephritis (Disease Ontology:DOID:10952)", "pathway": " (hsa:3683); (R-HSA-198933); (R-HSA-202733); (R-HSA-216083); (R-HSA-6798695); (R-HSA-8949275)", "pathway_count": 6, "publication_count": 296, "publication_id_list": "10.1101/2023.09.13.557529;10209034;10366422;10438935;10493852;10499918;10543983;10593924;10605720;10606205;10640428;10673366;10713152;10741396;10746781;10764623;10811134;10846180;10982388;11158588;11207550;11237011;11256994;11265639;11489943;11513152;11518510;11556966;11564780;11572855;11713259;11779189;11807247;11812992;11857637;11858820;11861603;11955593;11955595;11955599;11980922;12070135;12208882;12213321;12469115;12483297;12496264;12526797;12585966;12588680;12682293;12782713;12807887;12855590;14529530;14615387;14719373;14970179;15000751;15034010;15136729;15155468;15187158;15240572;15304001;15330449;15345499;15356110;15383545;15528364;15534202;15541655;15580655;15607800;15681301;15684041;15713743;15721307;15728350;15778510;15781451;15800062;15851719;15864273;1588291;15899827;1591491;16002701;16014749;16051604;16091383;16129954;16164020;16239428;16258728;16297198;16301335;16339513;16380601;16551255;16585556;16691243;16731529;16737824;16737840;16754661;16754721;1676048;16783819;16893496;16904340;16928187;16933105;17045824;17057721;17064312;17099249;17116209;17167768;17172599;17237375;17322099;17337780;17339034;17379836;17442946;17452516;17505016;17525755;17555819;17563375;17580308;17600130;17615384;17625065;17968485;18020948;18031695;18037897;18055229;18209062;18234675;18593354;18710925;18775695;19149696;19279206;19349973;19359216;19502598;19592130;20033473;2010551;20705068;20730098;21193412;21241660;21659548;21800138;21841309;21877119;22396535;22539938;22884367;23374253;23481700;23650620;23695528;23775590;23929856;23945545;24043627;24190977;24305946;24714562;24715725;24764293;2537322;2538457;25505266;25703557;25716998;25880248;25892735;26004068;26154972;26284469;26300885;26375851;26414766;26936951;26992070;27055590;27452731;27846572;27862975;28063628;28228285;28467828;28514659;28832583;28834231;29100055;29242379;29314611;29393594;29493099;29508533;29557506;29632046;29632711;29741879;29769354;29786170;30315122;30524438;3086451;31217245;31530632;31844290;31848261;31998317;32157095;32162841;32350084;32357974;32387766;32502341;32983136;33160625;33298915;33392160;33592498;33691108;33717175;33912179;33936100;34357683;34433824;34509645;34561969;34932366;35051231;35154160;35552271;35580925;36284347;37074911;37256932;38195629;38646528;40914422;468991;7479767;7505120;7509040;7521878;7525578;7531291;7541634;7542249;7542404;7559467;7685013;8097887;8099450;8103515;8118028;8163559;8166770;8178173;8314844;8344274;8560266;8692836;8798624;8798654;8805579;8838667;8910476;8995416;9052782;9169774;9242610;9251239;9285412;9295288;9314561;9382878;9443892;9565552;9693095;9700512;9730896;9763524;9858236", "class_list": "", "function": "CD64, CD11a and CD18 leukocytes expression in children with SARS-CoV-2 multisystem inflammatory syndrome versus children with Kawasaki disease: Similar but not the same., [RefSeq, PubMed]; ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; ITGAL expression in non-small-cell lung cancer tissue and its association with immune infiltrates. Erratum:[Front Immunol. 2024 Apr 26;15:1415814. doi: 10.3389/fimmu.2024.1415814. PMID: 38736883] Publication Status: Online-Only, [RefSeq, PubMed]; Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4 (PubMed:10846180, PubMed:12526797, PubMed:1676048, PubMed:3086451). Integrin ITGAL/ITGB2 is a receptor for F11R (PubMed:11812992, PubMed:15528364). Integrin ITGAL/ITGB2 is a receptor for the secreted form of ubiquitin-like protein ISG15; the interaction is mediated by ITGAL (PubMed:29100055). Involved in a variety of immune phenomena including leukocyte-endothelial cell interaction, cytotoxic T-cell mediated killing, and antibody dependent killing by granulocytes and monocytes. Contributes to natural killer cell cytotoxicity (PubMed:15356110). Involved in leukocyte adhesion and transmigration of leukocytes including T-cells and neutrophils (PubMed:11812992). Acts as a platform at the immunological synapse to translate TCR engagement and density of the ITGAL ligand ICAM1 into graded adhesion (PubMed:38195629). Required for generation of common lymphoid progenitor cells in bone marrow, indicating a role in lymphopoiesis (By similarity). Integrin ITGAL/ITGB2 in association with ICAM3, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590). Integrins ITGAL:ITGB2 functions as a receptor of the neuron-specific adhesion molecule ICAM5 ensuring neuron cell-leukocyte adhesion (PubMed:10741396). Integrin ITGAL/ITGB2 that functions as a signaling receptor of ICAM2, ensuring leukocyte cell-cell adhesion on resting cells (PubMed:1676048)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; LFA-1 activation enriches tumor-specific T cells in a cold tumor model and synergizes with CTLA-4 blockade., [RefSeq, PubMed]; LFA-1 nanoclusters integrate TCR stimulation strength to tune T-cell cytotoxic activity. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA PCBP1-AS1 mediated downregulation of ITGAL as a prognostic biomarker in lung adenocarcinoma., [RefSeq, PubMed]", "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": 5, "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": 5, "total_reported_o_glycosites": 1, "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": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 64, "disease_count": 1, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "O43746;Q45H73;Q96HB1;Q9UBC8", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0050839 cell adhesion molecule binding;GO:0044877 protein-containing complex binding;GO:0030369 ICAM-3 receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0035579 specific granule membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0002291 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell;GO:0006954 inflammatory response;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007229 integrin-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 36.7, "record_id": "P20701-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100010010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15063-1", "uniprot_id": [ { "id": "GRRE1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15063", "type": "external" } ], "mass": 116020.0, "length": 1070, "protein_name": "Granule associated Rac and RHOG effector protein 1", "gene_name": "GARRE1", "organism": "Human", "refseq_name": "granule associated Rac and RHOG effector protein 1", "refseq_ac": [ { "id": "NP_055501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055501", "type": "external" } ], "gene_names_uniprotkb": "GARRE1; KIAA0355", "gene_names_refseq": "GARRE1; KIAA0355; MiniBAR", "protein_names_uniprotkb": "Granule associated Rac and RHOG effector protein 1; GARRE1", "protein_names_refseq": "granule associated Rac and RHOG effector protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9710); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013408); (R-HSA-9013423)", "pathway_count": 5, "publication_count": 291, "publication_id_list": "10.1101/2023.09.13.557529;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;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11919634;11956649;11961559;11967128;12071859;12093360;12096337;12177196;12195014;12221096;12351724;12376551;12432077;12531887;12546821;12547822;12650940;12665586;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15169870;15302923;15339924;15342493;15485661;15507211;15542837;15579468;15601624;15611138;15728722;15814684;15850391;15858067;15897194;16002401;16081809;16112081;16116428;16184169;16243035;16243036;16339170;16473593;16492808;16507994;16519628;1660188;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17027967;17060455;17077126;17145773;17158234;17196961;17214551;17244649;17269730;17583407;17599059;17698854;17702745;17765681;17804252;17976533;18006505;18045877;18056264;18191593;18218625;18249095;18347018;18396277;18426980;18653540;18662984;18669648;18697831;18838382;19269969;19494238;19534724;19581409;19605563;19673492;19713215;19934221;20400958;20460433;20679435;20810653;21148482;21151158;21378159;21542010;21565175;21613211;21621533;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22734669;22970203;23186163;23209303;23255595;23288169;23434736;23481700;23572525;23707487;23718289;23757206;23870057;23940355;24086303;24259668;24335996;24352656;24623723;24659802;24859002;24933155;24960694;25024229;25211221;25428919;25645385;25704760;25721503;25795300;25862245;26016997;26129894;26529257;26628301;26887924;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;27846572;28114311;28196833;28356423;29089502;29358323;29382922;29395067;29557506;30429286;30779550;30833945;30853411;31389670;31844290;31848261;31871319;32042180;32157095;32203420;32357974;32387766;32488085;32938616;32983136;33298915;33592498;33912179;33968037;34171305;34185709;35051231;35318648;35561310;35580925;36010968;37217939;37938771;7476457;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;9822605;9843499;9988689", "class_list": "", "function": "Acts as an effector of RAC1 (PubMed:31871319). Associates with CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation (PubMed:29395067). May also play a role in miRNA silencing machinery (PubMed:29395067)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 26, "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": "Q2M3W4", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:1905762 CCR4-NOT complex binding", "go_cellular_component": "GO:0005829 cytosol;GO:0000932 P-body", "go_biological_process": "GO:0016601 Rac protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 29.6, "record_id": "O15063-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49441-1", "uniprot_id": [ { "id": "INPP_HUMAN", "url": "https://www.uniprot.org/uniprot/P49441", "type": "external" } ], "mass": 43998.0, "length": 399, "protein_name": "Inositol polyphosphate 1-phosphatase", "gene_name": "INPP1", "organism": "Human", "refseq_name": "inositol polyphosphate 1-phosphatase", "refseq_ac": [ { "id": "NP_001122400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122400", "type": "external" } ], "gene_names_uniprotkb": "INPP1", "gene_names_refseq": "INPP1", "protein_names_uniprotkb": "Inositol polyphosphate 1-phosphatase; 3.1.3.57; IPPase; IPP", "protein_names_refseq": "IPPase; IPP; inositol polyphosphate 1-phosphatase", "tax_id": 9606, "disease": "", "pathway": " (hsa:3628); (R-HSA-1855183)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10593988;10780272;11237011;12890864;1377913;15024000;15474001;15504367;17068342;1718960;18220336;18364358;23453640;24738946;28510447;29381655;29493099;31844290;32157095;32387766;32488085;32938616;33968037;35051231;35580925;36215666;36241641;40914422;7608176;7721860;7761412;8006039;8390685;9295334;9430698;9682271", "class_list": "", "function": "High INPP1 expression is associated with cancer aggressiveness., [RefSeq, PubMed]; Mg(2+)-dependent phosphatase that catalyzes the hydrolysis of the 1-position phosphate from inositol 1,4-bisphosphate and inositol 1,3,4-trisphosphate and participates in inositol phosphate metabolism., [UniProtKB, PubMed]; Results suggest that genetic variability at rs669838-IMPA2,rs4853694-INPP1, rs1732170-GSK3b and rs11921360-GSK3b genes is associated with a higher risk of attempting suicide in bipolar patients., [RefSeq, PubMed]; This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008]., [RefSeq]; We found the suicide-associated gene coexpression network. The reconstructed network consisted of 104 genes. Topological analysis showed that in total, CCK, INPP1, DDC, and NPY genes are the most fundamental hubs in the 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": "", "ec_number_list": [ { "id": "3.1.3.57", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.57", "type": "external" }, { "id": "3.1.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.7", "type": "external" } ], "go_molecular_function": "GO:0004441 inositol-1,4-bisphosphate 1-phosphatase activity;GO:0052829 inositol-1,3,4-trisphosphate 1-phosphatase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0006796 phosphate-containing compound metabolic process;GO:0046854 phosphatidylinositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "P49441-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92783-1", "uniprot_id": [ { "id": "STAM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92783", "type": "external" } ], "mass": 59180.0, "length": 540, "protein_name": "Signal transducing adapter molecule 1", "gene_name": "STAM", "organism": "Human", "refseq_name": "signal transducing adapter molecule 1 isoform a", "refseq_ac": [ { "id": "NP_003464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003464", "type": "external" } ], "gene_names_uniprotkb": "STAM; STAM1", "gene_names_refseq": "STAM-1; STAM1; STAM", "protein_names_uniprotkb": "Signal transducing adapter molecule 1; STAM-1", "protein_names_refseq": "HSE1 homolog; signal transducing adapter molecule 1 isoform a; signal transducing adapter molecule 1; signal transducing adaptor molecule (SH3 domain and ITAM motif) 1", "tax_id": 9606, "disease": "polycystic kidney disease (Disease Ontology:DOID:0080322)", "pathway": " (hsa:8027); (R-HSA-182971); (R-HSA-5689901); (R-HSA-6807004); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8875360); (R-HSA-9013420); (R-HSA-917729)", "pathway_count": 9, "publication_count": 339, "publication_id_list": "10097102;10383417;10436022;10514377;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10652316;10766823;10769163;10953014;10983987;10993906;11071885;11076969;11081636;11082044;11231140;11237011;11239472;11247302;11454741;11459829;11470803;11516654;11517213;11532990;11563910;11577110;11588219;11687594;11741535;11823423;11877457;11877461;11889126;11894095;11894096;11919637;11927540;11988742;12057195;12072436;12086608;12213833;12218189;12221107;12234920;12234931;12244174;12353037;12429842;12447393;12451172;12464600;12475979;12551915;12593795;12593796;12686592;12717448;12847086;12944396;12952949;12958364;1317852;14505571;14555962;14581451;14617351;14622578;14622579;14624836;14662753;14726597;14985334;15021893;15075231;15117950;15123609;15134832;15218037;15252009;15260957;15318165;15339664;15350535;1535555;15465819;15473838;15475003;15502812;15502813;15556869;15649145;15671180;15701692;15703209;15728179;15802264;15828871;15895077;15916959;15951569;15962011;16103228;16113677;16159959;16215232;16227611;16326391;16371348;16407834;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;16959974;16973552;17018281;17035995;17081983;17158794;17178829;17267500;17360967;17456551;17494869;17504809;17512409;17522231;17540576;17609109;17662939;17681954;17707232;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18292551;18388313;1847920;18758443;18775314;18790740;18819912;18819921;18981233;19054389;19064640;19092055;19109251;19140243;19202061;19278655;19287005;19296720;19458185;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19814798;19853559;19900460;19901323;20033059;20059951;20068231;20150893;20211604;20231386;20351096;20428113;20448150;20494825;20547754;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21376233;21445324;21482805;21499258;21508312;21565175;21613550;21757351;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23166352;23186163;23208509;23246432;23297414;23536704;23823722;23861397;23891661;24130457;24186068;24384571;24581490;24680432;24746795;24789820;24790097;24828152;24966051;25107275;25263444;25303366;25341920;25502872;25576301;25892735;26042225;26403691;26598620;26829388;26992070;27862975;28467828;28832583;28904123;2890644;29242379;29393594;29437277;29485866;29493099;29557506;29742433;29786170;30429286;30484775;30833945;31020640;31154438;31217245;31530632;31844290;31871319;32157095;32161166;32350084;32387766;32488085;32737221;32753481;32897882;32938616;32983136;33214551;33592498;33691108;33912179;33936100;33968037;34019948;34171305;3417785;34433824;34509645;34932366;35008409;35051231;35154160;35251023;35580925;36241641;36284347;37217939;37938771;38665916;6146630;7541030;7542744;7569928;7657591;7822302;7877694;8524399;8552632;8553074;8621719;8780729;8837779;9092476;9100026;9169477;9303539;9407053;9427626;9428629;9635431;9723620;9736607;9812899", "class_list": "", "function": "(Microbial infection) Plays an important role in Dengue virus entry., [UniProtKB, PubMed]; A non-GPCR-binding partner interacts with a novel surface on beta-arrestin1 to mediate GPCR signaling., [RefSeq, PubMed]; Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and MYC induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as a sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ99;D3DRU5;Q8N6D9", "ec_number_list": [], "go_molecular_function": "GO:0035091 phosphatidylinositol binding;GO:0043130 ubiquitin binding;GO:0044389 ubiquitin-like protein ligase binding", "go_cellular_component": "GO:0033565 ESCRT-0 complex;GO:0005829 cytosol;GO:0031901 early endosome 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:0007165 signal transduction;GO:0016236 macroautophagy;GO:1903543 positive regulation of exosomal secretion", "synthesized_glycan_count": 0, "hit_score": 34.2, "record_id": "Q92783-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NMX2-1", "uniprot_id": [ { "id": "I4E1B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NMX2", "type": "external" } ], "mass": 27596.0, "length": 242, "protein_name": "Eukaryotic translation initiation factor 4E type 1B", "gene_name": "EIF4E1B", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 4E type 1B", "refseq_ac": [ { "id": "NP_001092878", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092878", "type": "external" } ], "gene_names_uniprotkb": "EIF4E1B", "gene_names_refseq": "EIF4E1B", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 4E type 1B", "protein_names_refseq": "eukaryotic translation initiation factor 4E type 1B", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:253314)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;16191198;23301498;26375851;35051231;38177902", "class_list": "", "function": "EIF4E1b is a non-canonical eIF4E protecting maternal dormant mRNAs., [RefSeq, PubMed]; Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structure., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0000340 RNA 7-methylguanosine cap binding;GO:0003743 translation initiation factor activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0016281 eukaryotic translation initiation factor 4F complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0006417 regulation of translation;GO:0006413 translational initiation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A6NMX2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13647-1", "uniprot_id": [ { "id": "K2C5_HUMAN", "url": "https://www.uniprot.org/uniprot/P13647", "type": "external" } ], "mass": 62378.0, "length": 590, "protein_name": "Keratin, type II cytoskeletal 5", "gene_name": "KRT5", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 5", "refseq_ac": [ { "id": "NP_000415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000415", "type": "external" } ], "gene_names_uniprotkb": "KRT5", "gene_names_refseq": "CK5; DDD1; DDD; EBS1; EBS2A; EBS2B; EBS2C; EBS2D; EBS2E; EBS2F; EBS2; K5; KRT5A; KRT5", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 5; 58 kDa cytokeratin; CK-5; Cytokeratin-5; K5; Keratin-5; Type-II keratin Kb5", "protein_names_refseq": "58 kda cytokeratin; CK-5; cytokeratin-5; epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types; keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types); keratin 5, type II; keratin, type II cytoskeletal 5; type-II keratin Kb5", "tax_id": 9606, "disease": "Dowling-Degos disease (Disease Ontology:DOID:0060256); generalized severe epidermolysis bullosa simplex 1A (Disease Ontology:DOID:0060735); epidermolysis bullosa simplex 2F with mottled pigmentation (Disease Ontology:DOID:0111346); urinary bladder cancer (Disease Ontology:DOID:11054); epidermolysis bullosa simplex (Disease Ontology:DOID:4644); epidermolysis bullosa simplex 2E, with migratory circinate erythema (MONDO:MONDO:0012258); epidermolysis bullosa simplex 2A, generalized severe (MONDO:MONDO:0030489); epidermolysis bullosa simplex 2B, generalized intermediate (MONDO:MONDO:0030525); epidermolysis bullosa simplex 2C, localized (MONDO:MONDO:0030527); epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive (MONDO:MONDO:0030535)", "pathway": " (hsa:3852); (R-HSA-446107); (R-HSA-6805567); (R-HSA-6809371); (R-HSA-9725554); (R-HSA-9927418); (R-HSA-9927432); (R-HSA-9938206)", "pathway_count": 8, "publication_count": 167, "publication_id_list": "10066784;10196183;10231017;10411887;10494094;10588656;10637308;10730767;10771479;10782015;10811835;10852826;10903910;11237011;11350120;11380615;11407988;11590230;11973334;12067728;12482924;12624109;12655565;12707098;12802069;12902340;12925204;1372711;14654843;14723728;15033990;15140024;15140226;15234001;15337775;15347343;15373777;15556625;15675955;15731013;15780751;15797384;15803139;15969447;16061697;16297201;16382671;16465624;16639001;16786515;16882168;1691188;1694855;1714783;17330888;17389395;17515931;17521629;17562024;17596512;17855059;18083107;18452278;18843291;19190773;19194479;19220453;19242489;19691749;19924134;20128788;20179351;20657595;20667819;20940292;21375516;21439340;21569119;21623745;21654840;21997417;22437315;22705788;22735594;22832485;22967762;23283814;23450297;23481192;23629652;23783831;2414304;2447486;2455002;2456903;2476664;24794495;24940650;25208914;25926655;26340985;26375851;26390218;26432462;26758872;26853435;26992070;27862975;28228285;28510447;28855257;28899683;29393594;29557506;29786170;30240119;30315122;30524438;30779550;30905808;31302245;31399284;31611695;31844290;31995743;32157095;32350084;32357974;33214551;34019948;34171305;34211107;34357683;35051231;35083852;35580925;36010968;36239561;36241641;36809573;37212698;37217939;37758700;38665916;39990658;41018975;7506097;7520042;7534039;7543090;7684424;7686424;7688477;8595431;8757772;8799157;8807337;8824274;8999895;9036937;9395522;9406827;9468612;9565599;9740251;9804357;9989794", "class_list": "", "function": "Clinicopathological features of cytokeratin 5-positive pulmonary adenocarcinoma., [RefSeq, PubMed]; KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes., [RefSeq, PubMed]; Keratin 5 in Lung Cancer Specimens: Comparison of Four Antibody Clones and KRT5 mRNA-ISH., [RefSeq, PubMed]; Lung extracellular matrix modulates KRT5[+] basal cell activity in pulmonary fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress. Regulates the recruitment of Langerhans cells to the epidermis, potentially by modulation of the abundance of macrophage chemotactic cytokines, macrophage inflammatory cytokines and CTNND1 localization in keratinocytes., [UniProtKB, UniProtKB]; Structural component of intermediate filaments in basal keratinocytes of stratified epithelia. Together with its obligate type I partner KRT14, contributes to the formation of the keratin intermediate filament network that provides mechanical stability and resilience to the basal layer of the epidermis (PubMed:1372711, PubMed:1694855). Regulates the recruitment of Langerhans cells to the epidermis, potentially by modulation of the abundance of macrophage chemotactic cytokines, macrophage inflammatory cytokines and CTNND1 localization in keratinocytes (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [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": 17, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6PI71;Q6UBJ0;Q8TA91", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0097110 scaffold protein binding;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0031424 keratinization;GO:0008544 epidermis development;GO:0009612 response to mechanical stimulus;GO:0032880 regulation of protein localization;GO:0030334 regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "P13647-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15040-1", "uniprot_id": [ { "id": "JOS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15040", "type": "external" } ], "mass": 23198.0, "length": 202, "protein_name": "Josephin-1", "gene_name": "JOSD1", "organism": "Human", "refseq_name": "josephin-1", "refseq_ac": [ { "id": "NP_055691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055691", "type": "external" } ], "gene_names_uniprotkb": "JOSD1; JSPH1; KIAA0063", "gene_names_refseq": "JOSD1; dJ508I15.2", "protein_names_uniprotkb": "Josephin-1; 3.4.19.12; Josephin domain-containing protein 1", "protein_names_refseq": "josephin domain-containing 1; josephin domain-containing protein 1; josephin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9929); (R-HSA-5689877)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10915768;11237011;12486728;17696782;18477386;18579725;18599482;20940148;21118805;23186163;23625928;26811146;27846572;28355105;28467828;31043700;31844290;32157095;32265295;32488085;32502341;32897882;32938616;33912179;34357683;35580925", "class_list": "", "function": "Deubiquitinates monoubiquitinated probes (in vitro). When ubiquitinated, cleaves 'Lys-63'-linked and 'Lys-48'-linked poly-ubiquitin chains (in vitro), hence may act as a deubiquitinating enzyme. May increase macropinocytosis and suppress clathrin- and caveolae-mediated endocytosis. May enhance membrane dynamics and cell motility independently of its catalytic activity., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; In this study, the authors report that JOSD1 plays an important role in regulating type-I interferon (IFN-I)-mediated antiviral activity. JOSD1 physically interacts with SOCS1, which is an essential negative regulator of many cytokines signaling, and enhances SOCS1 stability by deubiquitinating K48-linked polyubiquitination of SOCS1., [RefSeq, PubMed]; JOSD1 inhibits mitochondrial apoptotic signalling to drive acquired chemoresistance in gynaecological cancer by stabilizing MCL1., [RefSeq, PubMed]; The gain of function studies indicated that Josephin domain containing 1 activate NR5A1 gene expression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K712", "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:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q15040-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52789-1", "uniprot_id": [ { "id": "HXK2_HUMAN", "url": "https://www.uniprot.org/uniprot/P52789", "type": "external" } ], "mass": 102380.0, "length": 917, "protein_name": "Hexokinase-2", "gene_name": "HK2", "organism": "Human", "refseq_name": "hexokinase-2 isoform 1", "refseq_ac": [ { "id": "NP_000180", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000180", "type": "external" } ], "gene_names_uniprotkb": "HK2", "gene_names_refseq": "HK2; HKII; HXK2", "protein_names_uniprotkb": "Hexokinase-2; 2.7.1.1; HK II; Hexokinase type II; Hexokinase-B; Muscle form hexokinase", "protein_names_refseq": "hexokinase type II; hexokinase-2 isoform 1; hexokinase-2, muscle; hexokinase-B; muscle form hexokinase", "tax_id": 9606, "disease": "maturity-onset diabetes of the young (Disease Ontology:DOID:0050524); hypertension (Disease Ontology:DOID:10763); neonatal diabetes mellitus (Disease Ontology:DOID:11717); hyperinsulinemic hypoglycemia (Disease Ontology:DOID:13317); glucose metabolism disease (Disease Ontology:DOID:4194); hyperglycemia (Disease Ontology:DOID:4195); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3099); (R-HSA-70171)", "pathway_count": 2, "publication_count": 151, "publication_id_list": "10714828;11237011;11371164;11506403;11780755;12616532;1278465;12965206;13538944;15710582;16511037;17804405;18350175;183598;1871135;18910716;18910717;18927083;18991276;21411499;22219026;22645359;23168256;23185017;23301498;23446454;2462567;24714562;24715725;25418920;25576301;25645385;25648650;25892735;26154972;26375851;26768311;26811146;26985301;26992070;27600516;27846572;27862975;27920218;2793178;28054552;28179998;28218747;28228285;2846554;28510447;28832583;28834231;28904123;29242379;29298880;29331515;29393594;29437277;29493099;29557506;2960695;29632046;29769354;29786170;29985480;30315122;30379171;30397120;30410026;30484775;30517626;30524438;30906213;31217245;31435020;3170585;31844290;3208766;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;3355497;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34509645;3453121;34561969;34782236;35051231;35132862;35251023;3529090;35318648;35561310;35580925;35705054;36010968;36241641;36284347;37938771;38682208;38750462;38795416;38801832;38995729;40914422;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7518342;7717389;7825568;7883120;7883122;7883123;7989588;8117307;8250948;8325892;8447317;8786021;9438414;9493266", "class_list": "glycogene", "function": "Activation of the MEK/ERK Pathway Mediates the Inhibitory Effects of Silvestrol on Nasopharyngeal Carcinoma Cells via RAP1A, HK2, and GADD45A., [RefSeq, PubMed]; CCT6A facilitates lung adenocarcinoma progression and glycolysis via STAT1/HK2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the phosphorylation of hexose, such as D-glucose and D-fructose, to hexose 6-phosphate (D-glucose 6-phosphate and D-fructose 6-phosphate, respectively) (PubMed:23185017, PubMed:26985301, PubMed:29298880). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (PubMed:29298880). Plays a key role in maintaining the integrity of the outer mitochondrial membrane by preventing the release of apoptogenic molecules from the intermembrane space and subsequent apoptosis (PubMed:18350175)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; HK2 and LDHA upregulation mediate hexavalent chromium-induced carcinogenesis, cancer development and prognosis through miR-218 inhibition., [RefSeq, PubMed]; Hexokinase 2 nonmetabolic function-mediated phosphorylation of IkappaBalpha enhances pancreatic ductal adenocarcinoma progression., [RefSeq, PubMed]; Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]., [RefSeq]; RNA-binding protein SORBS2 increases human trophoblast cell migration via stabilizing HK2 mRNA in preeclampsia. 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": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1111, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D6W5J2;Q8WU87;Q9UN82", "ec_number_list": [ { "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" } ], "go_molecular_function": "GO:0004340 glucokinase activity;GO:0008865 fructokinase activity;GO:0005524 ATP binding;GO:0004396 hexokinase activity;GO:0005536 D-glucose binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0016020 membrane;GO:0016529 sarcoplasmic reticulum", "go_biological_process": "GO:0035795 negative regulation of mitochondrial membrane permeability;GO:0002931 response to ischemia;GO:0001666 response to hypoxia;GO:0045766 positive regulation of angiogenesis;GO:2000378 negative regulation of reactive oxygen species metabolic process", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "P52789-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3YEC7-1", "uniprot_id": [ { "id": "RABL6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3YEC7", "type": "external" } ], "mass": 79549.0, "length": 729, "protein_name": "Rab-like protein 6", "gene_name": "RABL6", "organism": "Human", "refseq_name": "rab-like protein 6 isoform 3", "refseq_ac": [ { "id": "NP_001167459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167459", "type": "external" } ], "gene_names_uniprotkb": "RABL6; C9orf86; PARF", "gene_names_refseq": "C9orf86; PARF; RABL6; RBEL1; pp8875", "protein_names_uniprotkb": "Rab-like protein 6; 3.6.5.2; GTP-binding protein Parf; Partner of ARF; RBEL1; Rab-like protein 1", "protein_names_refseq": "Rab-like GTP-binding protein 1C; partner of ARF; putative GTP-binding protein Parf; rab-like protein 6 isoform 3; rab-like protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:55684)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16582619;17081983;17389395;17962191;18220336;19413330;19433581;19651622;19664994;19690332;19901323;20058876;20068231;20230923;21406692;23186163;23301498;23481700;23572512;24275569;25502872;25880248;26992070;28218747;28832583;29242379;29393594;29437277;29557506;29632046;31373491;31844290;31848261;32157095;32265295;32387766;32600359;34065204;34087483;34296378;35051231;35580925;36284347;37217939;37340703", "class_list": "", "function": "Characterization of all four RBEL1 splice variants in terms of their GTPase activities, subcellular localizations, regulations & potential functions; results indicate RBEL1 proteins are linked to cell growth & survival & possess unique characteristics, [RefSeq, PubMed]; CircTMC5 promotes gastric cancer progression and metastasis by targeting miR-361-3p/RABL6., [RefSeq, PubMed]; High expression of RABL6 promotes cell proliferation and predicts poor prognosis in esophageal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; RABL6A Regulates Schwann Cell Senescence in an RB1-Dependent Manner. Publication Status: Online-Only, [RefSeq, PubMed]; RBEL1A and RBEL1B are novel Rab-like proteins that localize in the nucleus and cytosol and may play an important role in breast tumorigenesis, [RefSeq, PubMed]; RBEL1A appears to function as a novel p53 negative regulator that facilitates MDM2-dependent p53 ubiquitylation and degradation., [RefSeq, PubMed]; Small GTPase involved in the regulation of cell growth and survival (PubMed:19433581). Promotes cellular proliferation (PubMed:16582619, PubMed:19433581). May reduce growth inhibitory activity of CDKN2A (PubMed:16582619)., [UniProtKB, PubMed, PubMed]; Small GTPase involved in the regulation of cell growth and survival. Promotes cellular proliferation. May reduce growth inhibitory activity of CDKN2A., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. 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": 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": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8QVZ7;A8QVZ8;C6K8I4;C6K8I5;Q4F968;Q5T5R7;Q8IWK1;Q8TCL4;Q8WU94;Q96SR8;Q9BU21;Q9H935", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0003925 G protein activity;GO:0003924 GTPase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q3YEC7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVM9-1", "uniprot_id": [ { "id": "INT13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVM9", "type": "external" } ], "mass": 80225.0, "length": 706, "protein_name": "Integrator complex subunit 13", "gene_name": "INTS13", "organism": "Human", "refseq_name": "integrator complex subunit 13", "refseq_ac": [ { "id": "NP_060634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060634", "type": "external" } ], "gene_names_uniprotkb": "INTS13; ASUN; C12orf11; GCT1", "gene_names_refseq": "ASUN; C12orf11; GCT1; INTS13; Mat89Bb; NET48; SPATA30", "protein_names_uniprotkb": "Integrator complex subunit 13; Cell cycle regulator Mat89Bb homolog; Germ cell tumor 1; Protein asunder homolog; Sarcoma antigen NY-SAR-95", "protein_names_refseq": "asunder, spermatogenesis regulator homolog (Drosphila); cell cycle regulator Mat89Bb homolog; germ cell tumor 1; integrator complex subunit 13; protein asunder homolog; sarcoma antigen NY-SAR-95; spermatogenesis associated 30", "tax_id": 9606, "disease": "", "pathway": " (hsa:55726); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 137, "publication_id_list": "10022900;11237011;11856838;12414650;12414730;12574128;12601173;14701755;1535687;15737938;16239144;16308568;16901896;16959974;17081983;17322306;1739980;18079403;1829677;18452278;18669648;19651622;19667075;20068231;20457598;2125285;22137580;22231121;22252320;22424782;22441827;22544926;22645359;22898188;23097494;23166507;23186163;23481700;23904267;23932780;24097444;24270878;24275569;24366607;24715725;24997600;25418920;25548167;25576301;25645385;25675981;25892735;26024233;26154972;26375851;26992070;27600516;27846572;28063628;28218747;28228285;28352266;28649982;28832583;28834231;28860189;28904123;29242379;29393594;29437277;2944599;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30192525;30315122;30379171;30429286;30484775;30524438;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32647223;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38570683;38823386;38906142;39032490;40914422;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:38570683, PubMed:38823386). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:38570683). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:32647223). Within the integrator complex, INTS13 is part of the integrator tail module and acts as a platform for the recruitment of transcription factors at promoters (PubMed:38823386, PubMed:38906142). At prophase, mediates recruitment of cytoplasmic dynein to the nuclear envelope, a step important for proper centrosome-nucleus coupling (PubMed:23097494, PubMed:23904267). At G2/M phase, may be required for proper spindle formation and execution of cytokinesis (PubMed:23097494, PubMed:23904267)., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 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": "B4DNK1;Q86WE2;Q96HM2;Q9BTX2;Q9NTB6;Q9NVM5", "ec_number_list": [], "go_molecular_function": "GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body;GO:0032039 integrator complex", "go_biological_process": "GO:0090435 protein localization to nuclear envelope;GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0051301 cell division;GO:0030317 flagellated sperm motility;GO:0007346 regulation of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q9NVM9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H910-1", "uniprot_id": [ { "id": "JUPI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H910", "type": "external" } ], "mass": 20063.0, "length": 190, "protein_name": "Jupiter microtubule associated homolog 2", "gene_name": "JPT2", "organism": "Human", "refseq_name": "jupiter microtubule associated homolog 2 isoform 4", "refseq_ac": [ { "id": "NP_653171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653171", "type": "external" } ], "gene_names_uniprotkb": "JPT2; C16orf34; HN1L; L11", "gene_names_refseq": "C16orf34; HN1L; JPT2; L11", "protein_names_uniprotkb": "Jupiter microtubule associated homolog 2; HN1-like protein; Hematological and neurological expressed 1-like protein", "protein_names_refseq": "CRAMP_1 like; HN1 like; HN1-like protein; hematological and neurological expressed 1 like; hematological and neurological expressed 1-like protein; jupiter microtubule associated homolog 2 isoform 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:90861)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "10.1038/emboj.2013.79;11237011;15094197;15334068;16964243;17287340;17322306;17924679;18212344;18220336;18452278;18669648;18767875;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068231;21406692;23186163;23584533;28657654;28904123;29242379;31217245;31373491;31492838;31530632;31844290;31848261;32157095;32938616;33214551;33758061;33758062;33968037;34019948;34519127;35051231;35318648;35580925;36241641;36476988;37607218;38417123;38665916;39302247;40596516", "class_list": "", "function": "(Microbial infection) Involved in the endolysosomal trafficking of human coronavirus SARS-CoV-2., [UniProtKB, PubMed]; Convergent activation of two-pore channels mediated by the NAADP-binding proteins JPT2 and LSM12., [RefSeq, PubMed]; HN1L promotes stem cell-like properties by regulating TGF-beta signaling pathway through targeting FOXP2 in prostate cancer., [RefSeq, PubMed]; HN1L/AP-2gamma/PLK1 signaling drives tumor progression and chemotherapy resistance in esophageal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; HN1L/JPT2: A signaling protein that connects NAADP generation to Ca(2+) microdomain formation. Publication Status: Online-Only, [RefSeq, PubMed]; JPT2 Affects Trophoblast Functions and Macrophage Polarization and Metabolism, and Acts as a Potential Therapeutic Target for Recurrent Spontaneous Abortion., [RefSeq, PubMed]; Nicotinic acid adenine dinucleotide phosphate (NAADP) binding protein required for NAADP-evoked intracellular calcium release (PubMed:33758061, PubMed:33758062). Confers NAADP-sensitivity to the two pore channels (TPCs) complex (PubMed:33758061). Enables NAADP to activate Ca(2+) release from the endoplasmic reticulum through ryanodine receptors (PubMed:33758062)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 16, "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": 12, "binding_glycan_count": 0, "secondary_ac_list": "B1AJY2;B4DLH4;Q6EIC7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0050848 regulation of calcium-mediated signaling;GO:0075509 endocytosis involved in viral entry into host cell", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9H910-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96SY0-1", "uniprot_id": [ { "id": "INT14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96SY0", "type": "external" } ], "mass": 57471.0, "length": 518, "protein_name": "Integrator complex subunit 14", "gene_name": "INTS14", "organism": "Human", "refseq_name": "integrator complex subunit 14 isoform 1", "refseq_ac": [ { "id": "NP_001129515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129515", "type": "external" } ], "gene_names_uniprotkb": "INTS14; C15orf44; VWA9", "gene_names_refseq": "C15orf44; INTS14; VWA9", "protein_names_uniprotkb": "Integrator complex subunit 14; von Willebrand factor A domain-containing protein 9", "protein_names_refseq": "UPF0464 protein C15orf44; integrator complex subunit 14 isoform 1; von Willebrand factor A domain containing 9; von Willebrand factor A domain-containing protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:81556); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10022900;11230166;11237011;11856838;12414730;12574128;14701755;1535687;16239144;16308568;16901896;1739980;18079403;1829677;19160420;19608861;19667075;20457598;2125285;22137580;22231121;22252320;22441827;22898188;23166507;23301498;23481700;23932780;24097444;24270878;24715725;24997600;25418920;25576301;25645385;25675981;25892735;26154972;26375851;26992070;27543614;27600516;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29371260;29393594;29437277;2944599;29493099;29557506;29632046;29769354;29786170;30315122;30429286;30484775;30524438;31217245;31844290;32157095;32357974;32387766;32647223;32897882;32938616;33141586;33392160;33537174;33592498;33717175;33912179;33968037;34171305;34185709;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;36920904;37938771;38570683;38823386;38906142;39032490;40914422;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:38570683, PubMed:38823386). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:38570683). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:32647223). Within the integrator complex, INTS14 is part of the integrator tail module that acts as a platform for the recruitment of transcription factors at promoters (PubMed:38823386, PubMed:38906142)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 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": "B4DDI6;B4DVD5;Q49AH8;Q96HX5;Q9H0S5", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0032039 integrator complex;GO:0160232 INTAC complex", "go_biological_process": "GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0016180 snRNA processing;GO:0034472 snRNA 3'-end processing;GO:0160240 RNA polymerase II transcription initiation surveillance", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q96SY0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14784-1", "uniprot_id": [ { "id": "IL2RB_HUMAN", "url": "https://www.uniprot.org/uniprot/P14784", "type": "external" } ], "mass": 61117.0, "length": 551, "protein_name": "Interleukin-2 receptor subunit beta", "gene_name": "IL2RB", "organism": "Human", "refseq_name": "interleukin-2 receptor subunit beta precursor", "refseq_ac": [ { "id": "NP_000869", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000869", "type": "external" } ], "gene_names_uniprotkb": "IL2RB; IL15RB", "gene_names_refseq": "CD122; IL15RB; IL2RB; IMD63; P70-75", "protein_names_uniprotkb": "Interleukin-2 receptor subunit beta; High affinity IL-2 receptor subunit beta; IL-2 receptor subunit beta; IL-2R subunit beta; IL-2RB; Interleukin-15 receptor subunit beta; p70-75; p75", "protein_names_refseq": "CD122 antigen; IL-2 receptor subunit beta; IL-2R subunit beta; IL-2RB; high affinity IL-2 receptor beta subunit; high affinity IL-2 receptor subunit beta; interleukin 15 receptor, beta; interleukin 2 receptor, beta; interleukin-15 receptor subunit beta; interleukin-2 receptor subunit beta precursor; p75", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); immunodeficiency 63 (Disease Ontology:DOID:0111997); hepatitis B (Disease Ontology:DOID:2043); asthma (Disease Ontology:DOID:2841); myasthenia gravis (Disease Ontology:DOID:437); visceral leishmaniasis (Disease Ontology:DOID:9146)", "pathway": " (hsa:3560); (R-HSA-5673001); (R-HSA-8983432); (R-HSA-9020558); (R-HSA-912526)", "pathway_count": 5, "publication_count": 146, "publication_id_list": "10207047;10214954;10358752;10455108;10508167;10570274;10602027;10825200;10869344;10982827;11027663;11090077;11136978;11237011;11313946;11340297;11546808;11702783;12032311;12094235;12121613;12200137;12433361;12623850;14506247;1465135;14707138;15123770;15178252;1526987;15356145;1545823;15546878;16212621;16293754;16477002;16627759;16684964;1716764;17675186;17998941;18477386;18507432;18512783;18775330;1898771;19279408;19920141;20478380;21102635;21372320;21779497;21779505;21865161;21993244;22299025;22569528;22589270;22750304;23103841;23303910;23443682;23555621;23575685;24190977;24714562;24715725;24737791;24897931;24937142;25219551;25502872;25781681;26085527;26375851;27846572;2785715;28218747;28467828;28778966;28832583;29242379;29317506;29437277;29493099;29774024;30315122;30573663;31040184;31040185;31092671;31135801;31217245;31530632;31844290;32350084;32502341;33298915;33912179;33981976;34078123;34357683;34433824;34932366;34970527;35051231;35154160;35381314;35458517;35924269;37074911;37169553;40914422;6148751;7499411;7529123;7568001;7600304;7641685;7809086;7935463;7972015;7973658;8022485;8052307;8084588;8294403;8394845;8493579;8530383;8631883;8643566;8648694;8665852;8700888;8702919;8710374;8939933;9030599;9099679;9108392;9126349;9512511;9604935;9885561;9927426", "class_list": "", "function": "IL2RB affects Th1/Th2 and Th17 responses of peripheral blood mononuclear cells from septic patients. Publication Status: Online-Only, [RefSeq, PubMed]; Interleukin 2 receptor subunit beta as a novel hub gene plays a potential role in the immune microenvironment of abdominal aortic aneurysms., [RefSeq, PubMed]; LTR of the THE1D retroelement family has been domesticated as an alternative promoter of human IL2RB, the gene encoding the beta subunit of the IL-2 receptor., [RefSeq, PubMed]; Liver Injury and Elevated Levels of Interleukins, Interleukin-2 Receptor, and Interleukin-6 Predict the Severity in Patients With COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770, PubMed:31040185)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Soluble IL-2R Levels at Baseline Predict the Development of Severe Respiratory Failure and Mortality in COVID-19 Patients. Publication Status: Online-Only, [RefSeq, PubMed]; The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. The use of alternative promoters results in multiple transcript variants encoding the same protein. The protein is primarily expressed in the hematopoietic system. The use by some variants of an alternate promoter in an upstream long terminal repeat (LTR) results in placenta-specific expression. [provided by RefSeq, Sep 2016]., [RefSeq]; Upregulated Expression of IL2RB Causes Disorder of Immune Microenvironment in Patients with Kawasaki Disease. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 1, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 1, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 1, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 6, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2R765", "ec_number_list": [], "go_molecular_function": "GO:0015026 coreceptor activity;GO:0004911 interleukin-2 receptor activity;GO:0019976 interleukin-2 binding;GO:0042010 interleukin-15 receptor activity;GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0038110 interleukin-2-mediated signaling pathway;GO:0007165 signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0043410 positive regulation of MAPK cascade;GO:0050766 positive regulation of phagocytosis", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "P14784-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1110000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13232-1", "uniprot_id": [ { "id": "IL7_HUMAN", "url": "https://www.uniprot.org/uniprot/P13232", "type": "external" } ], "mass": 20187.0, "length": 177, "protein_name": "Interleukin-7", "gene_name": "IL7", "organism": "Human", "refseq_name": "interleukin-7 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000871", "type": "external" } ], "gene_names_uniprotkb": "IL7", "gene_names_refseq": "IL-7; IL7; IMD130", "protein_names_uniprotkb": "Interleukin-7; IL-7", "protein_names_refseq": "interleukin-7 isoform 1 precursor", "tax_id": 9606, "disease": "immunodeficiency 130 with HPV-related verrucosis (Disease Ontology:DOID:0061171); COVID-19 (Disease Ontology:DOID:0080600); Alzheimer's disease (Disease Ontology:DOID:10652); high grade glioma (Disease Ontology:DOID:3070); periodontal disease (Disease Ontology:DOID:3388); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:3574); (R-HSA-1266695)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10850801;11237011;11418668;11564764;11728342;12184921;12889071;14593182;15353558;15749844;18523275;19141282;19864382;20974963;21105711;22464331;2317865;2329282;24417533;25870237;25981006;26301565;2643102;26974155;27423467;28904123;29139090;31844290;31918398;35580925;36627528;36748568;37369082;37566474;39093440;7489741;7514277;7527823;7719938;8128231;8266077;8702919;8709637;8862549;9233603;9398404;9407080;9553136;9715265", "class_list": "", "function": "Hematopoietic cytokine that plays an essential role in the development, expansion, and survival of naive and memory T-cells and B-cells thereby regulating the number of mature lymphocytes and maintaining lymphoid homeostasis. Mechanistically, exerts its biological effects through a receptor composed of IL7RA subunit and the cytokine receptor common subunit gamma/CSF2RG. Binding to the receptor leads to activation of various kinases including JAK1 or JAK3 depending on the cell type and subsequently propagation of signals through activation of several downstream signaling pathways including the PI3K/Akt/mTOR or the JAK-STAT5., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; IL-7 germline variant: setting the stage for immune-related adverse events., [RefSeq, PubMed]; IL-7 receptor signaling drives human B-cell progenitor differentiation and expansion., [RefSeq, PubMed]; Interleukin-7 expression by CAR-T cells improves CAR-T cell survival and efficacy in chordoma. Publication Status: Online-Only, [RefSeq, PubMed]; Tear levels of IL-7, IL-1alpha, and IL-1beta may differentiate between IgG4-related disease and Sjogren's syndrome., [RefSeq, PubMed]; The Therapeutic Values of IL-7/IL-7R and the Recombinant Derivatives in Glioma: A Narrative Review. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a cytokine important for B and T cell development. This cytokine and the hepatocyte growth factor (HGF) form a heterodimer that functions as a pre-pro-B cell growth-stimulating factor. IL7 is found to be a cofactor for V(D)J rearrangement of the T cell receptor beta (TCRB) during early T cell development. This cytokine can be produced locally by intestinal epithelial and epithelial goblet cells, and may serve as a regulatory factor for intestinal mucosal lymphocytes. IL7 plays an essential role in lymphoid cell survival, and in the maintenance of naive and memory T cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their presence in normal tissues has not been confirmed. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can be a potent inducer of proinflammatory cytokines and chemokines which may defend against the infection, but may also mediate destructive lung injury. Elevated serum IL7 levels, together with several other circulating cytokines and chemokines, has been found to be associated with the severity of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Jul 2020]., [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": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0N0L3;Q5FBY5;Q5FBY9", "ec_number_list": [], "go_molecular_function": "GO:0005139 interleukin-7 receptor binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0001961 positive regulation of cytokine-mediated signaling pathway;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0032722 positive regulation of chemokine production", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "P13232-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CE72-1", "uniprot_id": [ { "id": "ONCO_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CE72", "type": "external" } ], "mass": 12184.0, "length": 109, "protein_name": "Oncomodulin-1", "gene_name": "OCM", "organism": "Human", "refseq_name": "oncomodulin-1 isoform a", "refseq_ac": [ { "id": "NP_001091091", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091091", "type": "external" } ], "gene_names_uniprotkb": "OCM; OCM1; OCMN", "gene_names_refseq": "OCM1; OCM; OM; ONCM", "protein_names_uniprotkb": "Oncomodulin-1; OM; Parvalbumin beta", "protein_names_refseq": "beta parvalbumin; hCG18255; oncomodulin-1 isoform a; oncomodulin-1; parvalbumin beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:654231)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "15610002;21084621;21734401;26843644;8354278", "class_list": "", "function": "Data indicate taht candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified., [RefSeq, PubMed]; Deletion of oncomodulin in outer hair cells, leads to a progressive hearing loss in transgenic mice., [RefSeq, PubMed]; Has some calmodulin-like activity with respect to enzyme activation and growth regulation. Binds two calcium ions., [UniProtKB]; Ocm plays a central role in inflammation-induced regeneration in the optic nerve., [RefSeq, PubMed]; Oncomodulin is a high-affinity calcium ion-binding protein. It belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. Oncomodulin is an oncodevelopmental protein found in early embryonic cells in the placenta and also in tumors. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9EJH7;P32930;Q6ISI5;Q75MW0", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P0CE72-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULE6-1", "uniprot_id": [ { "id": "PALD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULE6", "type": "external" } ], "mass": 96754.0, "length": 856, "protein_name": "Paladin", "gene_name": "PALD1", "organism": "Human", "refseq_name": "paladin", "refseq_ac": [ { "id": "NP_055246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055246", "type": "external" } ], "gene_names_uniprotkb": "PALD1; KIAA1274; PALD", "gene_names_refseq": "KIAA1274; PALD1; PALD", "protein_names_uniprotkb": "Paladin", "protein_names_refseq": "paladin; palladin", "tax_id": 9606, "disease": "", "pathway": " (hsa:27143)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;19240061;19727444;20213681;22354871;25880248;26992070;27846572;27920218;28510447;28514659;29242379;29557506;29632046;30315122;30429286;31217245;31844290;32265295;32350084;33091337;33298915;33537174;33912179;33981976;35051231;35251023;35580925;36241641;37149695", "class_list": "", "function": "Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PALD (KIAA1274, paladin) has a role in inhibition of insulin's ability to down regulate a FOXO1A-driven reporter gene, reduce upstream insulin-stimulated AKT phosphorylation, and decrease insulin receptor (IR) abundance 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": 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": "B2RMS1;B9EGC6;Q5JTK7;Q5JTK8", "ec_number_list": [], "go_molecular_function": "GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9ULE6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWZ3-1", "uniprot_id": [ { "id": "IRAK4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWZ3", "type": "external" } ], "mass": 51530.0, "length": 460, "protein_name": "Interleukin-1 receptor-associated kinase 4", "gene_name": "IRAK4", "organism": "Human", "refseq_name": "interleukin-1 receptor-associated kinase 4 isoform a", "refseq_ac": [ { "id": "NP_001107654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107654", "type": "external" } ], "gene_names_uniprotkb": "IRAK4", "gene_names_refseq": "IMD67; IPD1; IRAK-4; IRAK4; NY-REN-64; REN64", "protein_names_uniprotkb": "Interleukin-1 receptor-associated kinase 4; 2.7.11.1; IRAK-4; Renal carcinoma antigen NY-REN-64", "protein_names_refseq": "interleukin-1 receptor-associated kinase 4 isoform a; renal carcinoma antigen NY-REN-64", "tax_id": 9606, "disease": "maxillary sinusitis (Disease Ontology:DOID:2051); brain ischemia (Disease Ontology:DOID:2316); asthma (Disease Ontology:DOID:2841); allergic rhinitis (Disease Ontology:DOID:4481); primary immunodeficiency disease (Disease Ontology:DOID:612); immunodeficiency 67 (MONDO:MONDO:0011888)", "pathway": " (hsa:51135); (R-HSA-1257604); (R-HSA-166058); (R-HSA-5603037); (R-HSA-5603041); (R-HSA-6811558); (R-HSA-9020702); (R-HSA-975110); (R-HSA-975138); (R-HSA-975155); (R-HSA-975871)", "pathway_count": 11, "publication_count": 164, "publication_id_list": "10075690;10191262;10465784;10508479;10514433;10702308;10854325;10882101;10918611;11073981;11094434;11147812;11237011;11544529;11803464;11960013;12138165;12140561;12167717;12297423;12447441;12447442;12496252;12538665;12637671;12724322;12767043;12791687;12860405;12925671;1325671;14625308;15084582;15361868;15492225;15585605;15718470;15767370;15917247;15944945;16024789;16286015;16286016;16439361;16456541;16751103;16950813;16951688;17046325;17135271;17141195;17161373;17200115;17217339;17312103;17337443;17344846;17485511;17507369;17675297;17726518;17878161;17878374;17890055;17893200;17997719;18070880;18070982;18180283;1828071;1833184;18438411;18669648;18691976;18710948;18794297;18829464;18925875;19224918;19264966;19498957;19509286;19576174;19592493;19592497;19608861;19663824;19805105;19903815;20068231;20338997;20400509;20485341;20966070;21057262;21269878;21325272;2139180;2147937;21606490;21827948;22454496;24316379;24397554;24567333;24715725;24840642;25034608;25892735;26154972;26992070;27466718;27600516;27876844;27920218;28218747;28512203;28832583;28904123;29242379;29314611;29393594;29437277;2946959;29508533;29557506;30115681;30379171;31844290;32157095;32357974;33091337;33238146;33298915;33592498;33912179;33968037;34171305;34357683;34561969;35051231;36010968;36241641;37074911;37744344;37938771;37997696;7628694;7637810;7744773;8327496;8332913;8599092;8645157;8837778;9008162;9346484;9371760;9430229;9736715;9859996;9895304;9990852;9990853", "class_list": "", "function": "Although each system seems to possess distinct activation mechanisms, interleukin-1 receptor-associated kinase (IRAK)-4 is essential for NF-kappaB activation in Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. Review article, [RefSeq, PubMed]; Crystallographic analysis of IRAK-4 kinase in complex with inhibitors, [RefSeq, PubMed]; Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways (PubMed:17878374). Is rapidly recruited by MYD88 to the receptor-signaling complex upon TLR activation to form the Myddosome together with IRAK2. Phosphorylates initially IRAK1, thus stimulating the kinase activity and intensive autophosphorylation of IRAK1. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs (CHUK/IKKA and IKBKB/IKKB) leading to NF-kappa-B nuclear translocation and activation. Alternatively, phosphorylates TIRAP to promote its ubiquitination and subsequent degradation. Phosphorylates NCF1 and regulates NADPH oxidase activation after LPS stimulation suggesting a similar mechanism during microbial infections., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; Toll-like receptor signalling via IRAK4 affects epithelial integrity and tightness through regulation of junctional tension., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 1, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q69FE1;Q8TDF7;Q9Y589", "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": "2.7.11.21", "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": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "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": "2.3.1.-", "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": "2.7.1.154", "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": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.3.2.27", "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:0019901 protein kinase binding;GO:0016301 kinase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0070498 interleukin-1-mediated signaling pathway;GO:0044546 NLRP3 inflammasome complex assembly;GO:0035556 intracellular signal transduction;GO:0045087 innate immune response;GO:0002446 neutrophil mediated immunity", "synthesized_glycan_count": 0, "hit_score": 17.5, "record_id": "Q9NWZ3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92598-1", "uniprot_id": [ { "id": "HS105_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92598", "type": "external" } ], "mass": 96865.0, "length": 858, "protein_name": "Heat shock protein 105 kDa", "gene_name": "HSPH1", "organism": "Human", "refseq_name": "heat shock protein 105 kDa isoform 2", "refseq_ac": [ { "id": "NP_001273432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273432", "type": "external" } ], "gene_names_uniprotkb": "HSPH1; HSP105; HSP110; KIAA0201", "gene_names_refseq": "HSP105A; HSP105B; HSP105; HSPH1; NY-CO-25", "protein_names_uniprotkb": "Heat shock protein 105 kDa; Antigen NY-CO-25; Heat shock 110 kDa protein; Heat shock protein family H member 1", "protein_names_refseq": "antigen NY-CO-25; heat shock 105kDa/110kDa protein 1; heat shock protein 105 kDa isoform 2; heat shock protein 105 kDa; heat shock protein family H member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10808); (R-HSA-3000484); (R-HSA-3371453)", "pathway_count": 3, "publication_count": 166, "publication_id_list": "10.1101/2023.09.13.557529;10772927;10865058;10954706;11237011;11747420;12558502;12853476;12917326;12974469;14654843;15345747;15364926;15371419;15802566;1586970;16083285;16232202;16278218;17081983;17287340;1754405;17615582;17924679;18078691;18212344;18235501;18235502;18550409;18669648;18707149;18767875;19229036;19237602;19369195;19413330;19415658;19651622;19664995;19696406;19914676;20068231;20166139;20686127;21406692;21740066;22223895;22465953;22541429;22735644;22898188;22940245;23186163;23301498;23349863;23481700;24275569;24318877;24366607;24714562;24715725;25418920;25576301;25645385;25802875;25880248;26154972;26375851;26728094;26758079;26992070;27600516;27846572;27920218;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29317506;29331515;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30379171;30429286;30484775;30524438;31217245;31390678;31844290;32119511;32128880;32157095;32350084;32357974;32387766;32488085;32502341;32815538;32870666;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34617313;34618840;34725712;34932366;35051231;35083852;35138101;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38165608;38253038;38665916;40596516;40914422;41350704;7585962;8721986;8946918;9305631;9395444;9610721;9873016;9920933;9931472", "class_list": "", "function": "Acts as a nucleotide-exchange factor (NEF) for chaperone proteins HSPA1A and HSPA1B, promoting the release of ADP from HSPA1A/B thereby triggering client/substrate protein release (PubMed:24318877). Prevents the aggregation of denatured proteins in cells under severe stress, on which the ATP levels decrease markedly. Inhibits HSPA8/HSC70 ATPase and chaperone activities (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Extracellular vesicles related gene HSPH1 exerts anti-tumor effects in prostate cancer via promoting the stress response of CD8 + T cells., [RefSeq, PubMed]; Functional differences between Hsp105/110 family proteins in cell proliferation, cell division, and drug sensitivity., [RefSeq, PubMed]; HSP105 expression in cutaneous malignant melanoma: Correlation with clinicopathological characteristics. Publication Status: Online-Only, [RefSeq, PubMed]; HSP105 expression in oral squamous cell carcinoma: Correlation with clinicopathological features and outcomes., [RefSeq, PubMed]; Oncogene HSPH1 modulated by the rs2280059 genetic variant diminishes EGFR-TKIs efficiency in advanced lung adenocarcinoma., [RefSeq, PubMed]; This gene encodes a member of the heat shock protein 70 family of proteins. The encoded protein functions as a nucleotide exchange factor for the molecular chaperone heat shock cognate 71 kDa protein (Hsc70). In addition, this protein plays a distinct but related role as a holdase that inhibits the aggregation of misfolded proteins, including the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Elevated expression of this protein has been observed in numerous human cancers. [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": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4DYH1;O95739;Q5TBM6;Q5TBM7;Q5TBM8;Q9UPC4", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0043014 alpha-tubulin binding;GO:0000774 adenyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051135 positive regulation of NK T cell activation;GO:0006457 protein folding;GO:0006986 response to unfolded protein;GO:0045345 positive regulation of MHC class I biosynthetic process;GO:0006950 response to stress", "synthesized_glycan_count": 0, "hit_score": 17.5, "record_id": "Q92598-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCT3-1", "uniprot_id": [ { "id": "MACA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCT3", "type": "external" } ], "mass": 60525.0, "length": 520, "protein_name": "Putative tyrosine carboxypeptidase MATCAP2", "gene_name": "MATCAP2", "organism": "Human", "refseq_name": "putative tyrosine carboxypeptidase MATCAP2 isoform 1", "refseq_ac": [ { "id": "NP_001093895", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093895", "type": "external" } ], "gene_names_uniprotkb": "MATCAP2; KIAA0895", "gene_names_refseq": "KIAA0895; MATCAP2; TMCP2", "protein_names_uniprotkb": "Putative tyrosine carboxypeptidase MATCAP2; 3.4.17.-", "protein_names_refseq": "putative tyrosine carboxypeptidase MATCAP2 isoform 1; putative tyrosine carboxypeptidase MATCAP2; tubulin metallocarboxypeptidase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23366)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;28904123;29557506;30315122;30379171;31154438;32157095;32938616;34171305;34185709;38253038;39894887", "class_list": "", "function": "Putative tyrosine carboxypeptidase., [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": 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": "B4DF35;B7ZLT4;B9EGB9;O94969;Q0VGC1;Q7Z4L2", "ec_number_list": [], "go_molecular_function": "GO:0008237 metallopeptidase activity;GO:0046872 metal ion binding;GO:0004180 carboxypeptidase activity", "go_cellular_component": "", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8NCT3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22304-1", "uniprot_id": [ { "id": "IDS_HUMAN", "url": "https://www.uniprot.org/uniprot/P22304", "type": "external" } ], "mass": 61873.0, "length": 550, "protein_name": "Iduronate 2-sulfatase", "gene_name": "IDS", "organism": "Human", "refseq_name": "iduronate 2-sulfatase isoform a preproprotein", "refseq_ac": [ { "id": "NP_000193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000193", "type": "external" } ], "gene_names_uniprotkb": "IDS; SIDS", "gene_names_refseq": "ID2S; IDS; MPS2; SIDS", "protein_names_uniprotkb": "Iduronate 2-sulfatase; 3.1.6.13; Alpha-L-iduronate sulfate sulfatase; Idursulfase", "protein_names_refseq": "alpha-L-iduronate sulfate sulfatase; iduronate 2-sulfatase 14 kDa chain; iduronate 2-sulfatase 42 kDa chain; iduronate 2-sulfatase isoform a preproprotein; idursulfase", "tax_id": 9606, "disease": "mucopolysaccharidosis II (Disease Ontology:DOID:12799)", "pathway": " (hsa:3423); (R-HSA-2024096); (R-HSA-2024101); (R-HSA-2206296); (R-HSA-9953078)", "pathway_count": 5, "publication_count": 122, "publication_id_list": "10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10215411;10220152;10339581;10446189;10447264;10466419;10671065;10838181;11015461;11027606;11237011;11568288;11683780;11731225;12213822;12441129;12655569;12794697;1284597;12888274;12927802;1303211;1550586;15647514;16151907;1639384;16699754;16960811;17033958;1907800;19159218;19224584;1928092;1946389;19889881;19901005;20560209;20560210;20576607;20650889;2122463;23090970;24190977;24780617;25576301;25645385;25880248;27600516;28228285;28593992;28832583;28904123;29242379;29314611;29632711;2971395;30315122;30779550;3134052;31844290;32157095;32350084;32357974;32983136;33290290;33592498;33912179;33968037;33981976;34089345;34185709;34670126;3468507;34830113;34932366;35051231;35580925;35916809;36241641;36284347;37074911;38253038;5822067;738706;7493035;7581397;7599640;7626005;7628016;7728156;7866405;7887413;7981716;8111411;8213840;8244397;8281149;8318991;8364592;8490623;8530090;8566953;8664909;8717057;8776591;8830188;8940265;9222763;9223416;9266380;9285796;9375851;9452044;9501270;9521684;9660053;9762601;9875019;9921913;9950361", "class_list": "glycogene", "function": "Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?, [RefSeq, PubMed]; Identification and structure characterization of novel IDS variants causing mucopolysaccharidosis type II: A retrospective analysis of 30 Chinese children., [RefSeq, PubMed]; Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Lysosomal enzyme involved in the degradation pathway of dermatan sulfate and heparan sulfate., [UniProtKB, PubMed, PubMed, PubMed]; Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome., [RefSeq, PubMed]; This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 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": 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": 810, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "D3DWT4;Q14604;Q9BRM3", "ec_number_list": [ { "id": "3.1.6.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.13", "type": "external" } ], "go_molecular_function": "GO:0004423 iduronate-2-sulfatase activity;GO:0005509 calcium ion binding;GO:0016787 hydrolase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005764 lysosome;GO:0043202 lysosomal lumen", "go_biological_process": "GO:0030209 dermatan sulfate proteoglycan catabolic process;GO:0006027 glycosaminoglycan catabolic process;GO:0030200 heparan sulfate proteoglycan catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "P22304-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02556-1", "uniprot_id": [ { "id": "IRF8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02556", "type": "external" } ], "mass": 48356.0, "length": 426, "protein_name": "Interferon regulatory factor 8", "gene_name": "IRF8", "organism": "Human", "refseq_name": "interferon regulatory factor 8 isoform 2", "refseq_ac": [ { "id": "NP_002154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002154", "type": "external" } ], "gene_names_uniprotkb": "IRF8; ICSBP1", "gene_names_refseq": "H-ICSBP; ICSBP1; ICSBP; IMD32A; IMD32B; IRF-8; IRF8", "protein_names_uniprotkb": "Interferon regulatory factor 8; H-ICSBP; ICSBP; IRF-8; Interferon consensus sequence-binding protein", "protein_names_refseq": "interferon consensus sequence binding protein 1; interferon regulatory factor 8 isoform 2", "tax_id": 9606, "disease": "familial chronic myelocytic leukemia-like syndrome (Disease Ontology:DOID:0060761); immunodeficiency 32B (Disease Ontology:DOID:0111985); immunodeficiency 32A (Disease Ontology:DOID:0111986); Behcet's disease (Disease Ontology:DOID:13241); systemic lupus erythematosus (Disease Ontology:DOID:9074); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:3394); (R-HSA-877300); (R-HSA-909733)", "pathway_count": 3, "publication_count": 165, "publication_id_list": "10067896;10395669;10542297;10982844;10986460;10991940;11092454;11237011;11337497;11377645;11404376;11585831;11972023;12029096;12040185;12438563;12446674;12766484;12842042;12915721;1396683;14586410;1460054;14722222;14769151;15047845;1508672;15143187;15312780;15322115;15388922;15449939;15530433;15778442;16009940;16171819;16237089;16467876;16959974;16987978;17125875;17251292;1730654;17351669;17969444;18035202;18362138;18575461;18591661;20049711;20130243;20304997;20363976;20643137;21524210;2211721;22544926;23061660;23121362;23166356;23481700;24366607;24397554;24417533;25122610;25371710;25418920;25880248;25892735;26154972;26375851;26992070;27149934;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29434592;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30410026;30429286;30485383;31217245;31844290;32032529;32113509;32350084;32357974;32387766;32502341;32511913;32574262;32661006;32758689;32862111;32983136;33117408;33141586;33189161;33193462;33239784;33298915;33396578;33691108;33717175;33912179;33936100;34509645;34932366;35051231;35580925;36703005;36959484;37508555;37591714;37938771;38481803;6162102;6548414;688397;7510216;7514165;7526154;7530745;7537377;7540766;7584149;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8197134;8232552;8483949;8530158;8550631;8605876;8621447;8631301;8702790;9096384;9111318;9121453;9143706;9242679;9334213;9660177;9847332;9861020", "class_list": "", "function": "Circulating IRF8-expressing CD123[+]CD127[+] lymphoid progenitors: key players in human hematopoiesis. Review article, [RefSeq, PubMed]; Expression of Interferon Regulatory Factor 8 (IRF8) and Its Association with Infections in Dialysis Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008]., [RefSeq]; Intrathymic dendritic cell-biased precursors promote human T cell lineage specification through IRF8-driven transmembrane TNF., [RefSeq, PubMed]; Loss of IRF8 inhibits the growth of acute myeloid leukemia cells., [RefSeq, PubMed]; Transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)) (PubMed:25122610). Can both act as a transcriptional activator or repressor (By similarity). Plays a negative regulatory role in cells of the immune system (By similarity). Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF8 and activation of genes (By similarity). Required for the development of plasmacytoid dendritic cells (pDCs), which produce most of the type I IFN in response to viral infection (By similarity). Positively regulates macroautophagy in dendritic cells (PubMed:29434592). Acts as a transcriptional repressor of osteoclast differentiation factors such as NFATC1 and EEIG1 (By similarity)., [UniProtKB, UniProtKB, 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 12, "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": "A0AV82", "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:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0002273 plasmacytoid dendritic cell differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "Q02556-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RY7-1", "uniprot_id": [ { "id": "IF140_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RY7", "type": "external" } ], "mass": 165193.0, "length": 1462, "protein_name": "Intraflagellar transport protein 140 homolog", "gene_name": "IFT140", "organism": "Human", "refseq_name": "intraflagellar transport protein 140 homolog", "refseq_ac": [ { "id": "NP_055529", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055529", "type": "external" } ], "gene_names_uniprotkb": "IFT140; KIAA0590; WDTC2", "gene_names_refseq": "CED5; IFT140; MZSDS; PKD9; RP80; SRTD9; WDTC2; c305C8.4; c380F5.1; gs114", "protein_names_uniprotkb": "Intraflagellar transport protein 140 homolog; WD and tetratricopeptide repeats protein 2", "protein_names_refseq": "WD and tetratricopeptide repeats protein 2; intraflagellar transport 140 homolog; intraflagellar transport protein 140 homolog", "tax_id": 9606, "disease": "retinitis pigmentosa 80 (Disease Ontology:DOID:0061111); asphyxiating thoracic dystrophy 1 (Disease Ontology:DOID:0110085); short-rib thoracic dysplasia 9 with or without polydactyly (Disease Ontology:DOID:0110097); polycystic kidney disease 9, susceptibility to (MONDO:MONDO:0976267); cranioectodermal dysplasia 5 (MONDO:MONDO:0976269)", "pathway": " (hsa:9742); (R-HSA-5610787); (R-HSA-5620924)", "pathway_count": 3, "publication_count": 200, "publication_id_list": "10069812;10966113;11237011;11285270;11375483;12192414;12435627;12795688;14603322;15087129;15231740;15269286;15489852;15523559;15930098;15955805;16049494;16061793;16136078;16229832;16254602;16311594;16339192;16396903;16435301;16492809;16493421;16707575;16775004;16782012;17027958;17200122;17312020;17314406;17442700;17553904;17574030;17641202;17762891;17960137;18180368;18304522;18327258;18364699;18369462;18455992;18832070;18852297;19000668;19112494;19147001;19196978;19223390;19253336;19286674;19365551;19384852;19413330;19450523;19549984;19592253;19666503;19690332;19720863;19767740;19776033;19805633;19877275;19906846;19948480;19996169;20067783;20154143;20207148;20395968;20412786;20435895;20460306;20526327;20526328;20530210;20844016;20889716;20956384;2105456;21209331;21427764;21695114;21801010;21936775;22007132;22118932;22231273;22391300;22503633;22922713;22992454;23186163;23209152;23332756;23418020;23481700;23719536;23945166;23990561;24009529;24140113;24296415;24302888;24339784;24596149;24616010;24715725;24845016;24863049;24917297;24925320;24952464;25205765;25349261;25443296;25576301;25860617;25880248;26154972;26216056;26359340;26968735;26992070;27397612;27846572;27862975;27932497;28218747;28228285;28288023;28649982;28724397;28832583;28834231;28904123;29111861;29220510;29242379;29393594;29437277;29557506;29632046;29688594;29786170;29789417;30315122;30429286;30524438;30929735;31154438;31844290;31848261;32007091;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33298915;33537174;33592498;33912179;33968037;33981976;34171305;34185709;34433824;34561969;34596737;34890546;35051231;35318648;35494241;35580925;35873489;36241641;36284347;36393898;36581221;36775821;37628605;37844724;39136524;39894887;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs) (PubMed:20889716, PubMed:22503633, PubMed:36775821). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance (PubMed:22503633). Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype., [RefSeq, PubMed]; This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "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": "A2A2A8;D3DU75;O60332;Q9UG52", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005929 cilium;GO:0005814 centriole;GO:0005930 axoneme;GO:0036064 ciliary basal body", "go_biological_process": "GO:0060271 cilium assembly;GO:0061512 protein localization to cilium;GO:0097499 protein localization to non-motile cilium;GO:1902017 regulation of cilium assembly;GO:0035721 intraciliary retrograde transport", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "Q96RY7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ICG6-1", "uniprot_id": [ { "id": "K0930_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ICG6", "type": "external" } ], "mass": 45794.0, "length": 404, "protein_name": "Uncharacterized protein KIAA0930", "gene_name": "KIAA0930", "organism": "Human", "refseq_name": "uncharacterized protein KIAA0930 isoform b", "refseq_ac": [ { "id": "NP_001009880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009880", "type": "external" } ], "gene_names_uniprotkb": "KIAA0930; C22orf9", "gene_names_refseq": "C22orf9; KIAA0930; LSC3", "protein_names_uniprotkb": "Uncharacterized protein KIAA0930", "protein_names_refseq": "uncharacterized protein KIAA0930 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:23313)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;18477386;18669648;19413330;19664994;19690332;20058876;23186163;23481700;24275569;25418920;25576301;25892735;26992070;27600516;27846572;27920218;28063628;28228285;28832583;28904123;29242379;29393594;29437277;29557506;29632046;30315122;30379171;30410026;30620550;30784271;31217245;31530632;31844290;32157095;32350084;32357974;32387766;32393777;32488085;32502341;32938616;32983136;33141586;33298915;33691108;33912179;33968037;33981976;34509645;34932366;35051231;35580925;36241641;40596516", "class_list": "", "function": "Protein-altering germline mutations implicate novel genes related to lung cancer development. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 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": "B0QY17;B0QY19;B3KT48;Q6ZVE5;Q7Z6K9;Q8IZ76;Q9Y2E2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q6ICG6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JUK3-1", "uniprot_id": [ { "id": "KCNT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JUK3", "type": "external" } ], "mass": 138343.0, "length": 1230, "protein_name": "Potassium channel subfamily T member 1", "gene_name": "KCNT1", "organism": "Human", "refseq_name": "potassium channel subfamily T member 1 isoform 2", "refseq_ac": [ { "id": "NP_001258932", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258932", "type": "external" } ], "gene_names_uniprotkb": "KCNT1; KIAA1422; SLACK; Slo2.2", "gene_names_refseq": "DEE14; EIEE14; ENFL5; KCNT1; KCa4.1; KNa1.1; SLACK; Slo2.2; bA100C15.2", "protein_names_uniprotkb": "Potassium channel subfamily T member 1; KCa4.1; KNa1.1; Sodium and chloride-activated ATP-sensitive potassium channel Slo2.2", "protein_names_refseq": "Sequence like a calcium-activated K+ channel; potassium channel subfamily T member 1 isoform 2; potassium channel, sodium activated subfamily T, member 1; potassium channel, subfamily T, member 1; sodium and chloride-activated ATP-sensitive potassium channel Slo2.2", "tax_id": 9606, "disease": "autosomal dominant nocturnal frontal lobe epilepsy 5 (Disease Ontology:DOID:0060686); developmental and epileptic encephalopathy 14 (Disease Ontology:DOID:0080439); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:57582)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;18479385;20512134;23086396;23086397;23708187;24029078;24463883;25892735;26993267;27864847;29393594;29557506;29769354;31530632;32938616;35051231;37177976;37494189;38289338;38605520", "class_list": "", "function": "A molecular switch in RCK2 triggers sodium-dependent activation of KNa1.1 (KCNT1) potassium channels., [RefSeq, PubMed]; Coupling of Slack and NaV1.6 sensitizes Slack to quinidine blockade and guides anti-seizure strategy development. Publication Status: Online-Only, [RefSeq, PubMed]; Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties., [RefSeq, PubMed]; Mutations in KCNT1 cause a severe form of ADNFLE and sporadic NFLE., [RefSeq, PubMed]; Our data identify KCNT1 as a major disease-associated gene in Malignant migrating partial seizures of infancy ., [RefSeq, PubMed]; Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]., [RefSeq]; Sodium-activated K(+) channel (PubMed:37494189). Acts as an important mediator of neuronal membrane excitability (PubMed:37494189). Contributes to the delayed outward currents (By similarity). Regulates neuronal bursting in sensory neurons (By similarity). Contributes to synaptic development and plasticity (By similarity)., [UniProtKB, UniProtKB, PubMed, 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": 12, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KXF7;B7ZVY4;B9EGP2;G5E9V0;Q9P2C5", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0015271 outward rectifier potassium channel activity;GO:0046872 metal ion binding;GO:0005228 intracellular sodium-activated potassium channel activity;GO:0005267 potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q5JUK3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDH6-1", "uniprot_id": [ { "id": "ICA1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDH6", "type": "external" } ], "mass": 54407.0, "length": 482, "protein_name": "Islet cell autoantigen 1-like protein", "gene_name": "ICA1L", "organism": "Human", "refseq_name": "islet cell autoantigen 1-like protein isoform 1", "refseq_ac": [ { "id": "NP_001275551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275551", "type": "external" } ], "gene_names_uniprotkb": "ICA1L; ALS2CR14; ALS2CR15", "gene_names_refseq": "ALS2CR14; ALS2CR15; ICA1L", "protein_names_uniprotkb": "Islet cell autoantigen 1-like protein; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 14 protein; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 15 protein", "protein_names_refseq": "Ica69-related protein; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 14 protein; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 15 protein; islet cell autoantigen 1,69kDa-like; islet cell autoantigen 1-like protein isoform 1; islet cell autoantigen 1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:130026)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;11586298;24715725;26992070;28218747;29242379;29437277;29557506;30315122;30379171;30429286;32488085;32938616;33298915;33912179;34357683;35051231;35328582", "class_list": "", "function": "ICA1L Is Associated with Small Vessel Disease: A Proteome-Wide Association Study in Small Vessel Stroke and Intracerebral Haemorrhage. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KRW6;Q53P45;Q53QZ4;Q53T97;Q96N47;Q96Q32;Q9BVQ2", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0140090 membrane curvature sensor activity", "go_cellular_component": "GO:0030667 secretory granule membrane;GO:0001669 acrosomal vesicle;GO:0005737 cytoplasm;GO:0012505 endomembrane system", "go_biological_process": "GO:0097753 membrane bending;GO:0051046 regulation of secretion", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8NDH6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46977-1", "uniprot_id": [ { "id": "STT3A_HUMAN", "url": "https://www.uniprot.org/uniprot/P46977", "type": "external" } ], "mass": 80530.0, "length": 705, "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A", "gene_name": "STT3A", "organism": "Human", "refseq_name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform a", "refseq_ac": [ { "id": "NP_001265432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265432", "type": "external" } ], "gene_names_uniprotkb": "STT3A; ITM1; TMC", "gene_names_refseq": "CDG1WAD; CDG1WAR; ITM1; STT3-A; STT3A; TMC", "protein_names_uniprotkb": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A; 2.4.99.18; B5; Integral membrane protein 1; Oligosaccharyl transferase subunit STT3A; STT3-A; Transmembrane protein TMC", "protein_names_refseq": "B5; STT3, subunit of the oligosaccharyltransferase complex, homolog A; STT3A, catalytic subunit of the oligosaccharyltransferase complex; STT3A, subunit of the oligosaccharyltransferase complex (catalytic); dolichyl-diphosphooligosaccharide protein glycotransferase; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform a; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A; integral membrane protein 1; integral transmembrane protein 1; oligosaccharyl transferase subunit STT3A; transmembrane conserved; transmembrane protein TMC", "tax_id": 9606, "disease": "congenital disorder of glycosylation Iw (Disease Ontology:DOID:0080572); congenital disorder of glycosylation, type Iw, autosomal dominant (MONDO:MONDO:0859223)", "pathway": " (hsa:3703); (R-HSA-446203); (R-HSA-9694548); (R-HSA-9768727); (R-HSA-9918432); (R-HSA-9931295)", "pathway_count": 6, "publication_count": 180, "publication_id_list": "10.1101/2023.09.13.557529;10228156;11237011;11470266;12089159;12171918;12678917;12887896;12893276;14514716;14688233;16317064;17261850;18491227;19159218;19167329;19748539;19835842;20112406;20798515;22375065;22544926;22645359;22898188;22915798;23090970;23481700;23606741;23842455;24112972;24190977;24366607;24681004;24715725;24966173;25135935;25418920;25576301;25645385;25880248;26024233;26154972;26208004;26375851;26416966;26811146;26929215;26992070;27255086;27383988;27452731;27572267;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28228593;2834401;28424003;28512129;28514659;28649982;28832583;28834231;28860189;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29741879;29765039;29769354;29786170;30059200;30118680;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31296534;31305264;31530632;31831667;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32363391;32366695;32387766;32488085;32502341;32518941;32676595;32897882;32938616;32983136;33123756;33141586;33298915;33310888;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34093574;34117209;34171305;34211107;34405274;34428449;34509645;34528721;34561969;34599882;34653363;34725712;34846842;34932366;34961524;35051231;35083852;35215835;35254053;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36697828;36719382;37074911;37864032;37938771;38665916;38670073;38793607;39302247;39509507;39531497;39534244;40596516;6156677;7072193;7982500;7986008;8634329;8838310", "class_list": "glycogene;glycosyltransferase", "function": "Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:19167329, PubMed:31296534, PubMed:31831667, PubMed:34653363, PubMed:38670073, PubMed:39509507). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER) (PubMed:19167329, PubMed:31296534, PubMed:31831667, PubMed:34653363, PubMed:38670073, PubMed:39509507). All subunits are required for a maximal enzyme activity (PubMed:19167329, PubMed:31831667, PubMed:34653363). This subunit contains the active site and the acceptor peptide and donor lipid-linked oligosaccharide (LLO) binding pockets (PubMed:19167329). STT3A is present in the majority of OST complexes and mediates cotranslational N-glycosylation of most sites on target proteins, while STT3B-containing complexes are required for efficient post-translational glycosylation and mediate glycosylation of sites that have been skipped by STT3A (PubMed:19167329, PubMed:38670073, PubMed:39509507). STT3A-containing OST-A complex is also required to prevent hyperglycosylation of some target proteins by preventing glycosylation of facultative sites before folding of target proteins is completed (PubMed:39509507)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; STT3A-mediated viral N-glycosylation underlies the tumor selectivity of oncolytic virus M1., [RefSeq, PubMed]; The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 578, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 26, "disease_count": 2, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B4DJ24;E9PNQ1;Q86XU9;Q8TE35;Q8WUB4", "ec_number_list": [ { "id": "2.4.1.83", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.83", "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": "2.4.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.18", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004579 dolichyl-diphosphooligosaccharide-protein glycotransferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0008250 oligosaccharyltransferase complex;GO:0160226 oligosaccharyltransferase complex A", "go_biological_process": "GO:0043687 post-translational protein modification;GO:0006487 protein N-linked glycosylation;GO:0180058 protein co-translational transfer of dolichol-linked oligosaccharide;GO:0009101 glycoprotein biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 21.7, "record_id": "P46977-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UE8-1", "uniprot_id": [ { "id": "TLK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UE8", "type": "external" } ], "mass": 87661.0, "length": 772, "protein_name": "Serine/threonine-protein kinase tousled-like 2", "gene_name": "TLK2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase tousled-like 2 isoform C", "refseq_ac": [ { "id": "NP_001271262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271262", "type": "external" } ], "gene_names_uniprotkb": "TLK2", "gene_names_refseq": "HsHPK; MRD57; PKU-ALPHA; TLK2", "protein_names_uniprotkb": "Serine/threonine-protein kinase tousled-like 2; 2.7.11.1; HsHPK; PKU-alpha; Tousled-like kinase 2", "protein_names_refseq": "serine/threonine-protein kinase tousled-like 2 isoform C; serine/threonine-protein kinase tousled-like 2", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 57 (Disease Ontology:DOID:0061031)", "pathway": " (hsa:11011)", "pathway_count": 1, "publication_count": 91, "publication_id_list": "10455159;10523312;11237011;11470414;12660173;12955071;16484223;17344846;18669648;18691976;19369195;19690332;20016786;20056645;20112406;21572417;21647934;22354037;23186163;23481700;24366607;24397554;24715725;25418920;25576301;25645385;25880248;26154972;26375851;26811146;26929215;26992070;27397612;27479843;27543614;27600516;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29786170;29861108;29955062;30315122;31492838;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33298915;33323470;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34211107;34932366;35051231;35136069;35318648;35561310;35580925;36010968;36241641;36284347;37938771;38926950;9427565;9662073", "class_list": "", "function": "ASF1 cellular levels are tightly controlled by distinct pathways and provide a molecular mechanism for post-translational regulation of dASF1 and hASF1a by TLK kinases. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Serine/threonine-protein kinase involved in the process of chromatin assembly and probably also DNA replication, transcription, repair, and chromosome segregation (PubMed:10523312, PubMed:11470414, PubMed:12660173, PubMed:12955071, PubMed:29955062, PubMed:33323470, PubMed:9427565). Phosphorylates the chromatin assembly factors ASF1A and ASF1B (PubMed:11470414, PubMed:20016786, PubMed:29955062, PubMed:35136069). Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly (PubMed:20016786). Negative regulator of amino acid starvation-induced autophagy (PubMed:22354037)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TLKs appear to be intimately linked to the pattern of resistance to DNA damage, and specifically double-strand breaks., [RefSeq, PubMed]; This gene encodes a nuclear serine/threonine kinase that was first identified in Arabidopsis. The encoded protein is thought to function in the regulation of chromatin assembly in the S phase of the cell cycle by regulating the levels of a histone H3/H4 chaperone. This protein is associated with double-strand break repair of DNA damage caused by radiation. Pseudogenes of this gene are present on chromosomes 10 and 17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]; [Effect of TLK2 Expression Regulated by MiR-21 on Proliferation and Apoptosis of Acute Myeloid Leukemia Cells]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DU07;Q9UKI7;Q9Y4F7", "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:0042802 identical protein binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0048471 perinuclear region of cytoplasm;GO:0005882 intermediate filament", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007059 chromosome segregation;GO:0035556 intracellular signal transduction;GO:0006974 DNA damage response;GO:0010507 negative regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q86UE8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96I76-1", "uniprot_id": [ { "id": "GPTC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96I76", "type": "external" } ], "mass": 59338.0, "length": 525, "protein_name": "G patch domain-containing protein 3", "gene_name": "GPATCH3", "organism": "Human", "refseq_name": "G patch domain-containing protein 3", "refseq_ac": [ { "id": "NP_071361", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071361", "type": "external" } ], "gene_names_uniprotkb": "GPATCH3; GPATC3", "gene_names_refseq": "GPATC3; GPATCH3", "protein_names_uniprotkb": "G patch domain-containing protein 3", "protein_names_refseq": "G patch domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:63906)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;26375851;26992070;27846572;27862975;27920218;28397860;28414768;28832583;29242379;29393594;29493099;29557506;29632046;29769354;30315122;31217245;31844290;32157095;32938616;33298915;33912179;33968037;34171305;34932366;35051231;35580925", "class_list": "", "function": "GPATCH3 interacts with VISA and disrupts the assembly of virus-induced VISA signalosome therefore acts as a negative regulator of RLR-mediated innate antiviral immune responses. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in transcriptional regulation. It is able to activate transcription from the CXCR4 promoter and therefore it might control neural crest cell migration involved in ocular and craniofacial development (PubMed:28397860). Is a negative regulator of immune antiviral response, acting via down-regulation of RIG-I-like receptors signaling and inhibition of type I interferon production. The control mechanism involves interaction with mitochondrial MAVS and inhibition of MAVS assembly with downstream proteins implicated in antiviral response, such as TBK1 and TRAF6 (PubMed:28414768)., [UniProtKB, PubMed, PubMed]; The results show the existence of high genetic heterogeneity in congenital glaucoma and the role of GPATCH3 in this disease. GPATCH3 is a new gene involved in ocular and craniofacial development. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q5JYH2;Q8NDJ2;Q9H9Z3", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0039536 negative regulation of RIG-I signaling pathway;GO:0032480 negative regulation of type I interferon production", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q96I76-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24001-1", "uniprot_id": [ { "id": "IL32_HUMAN", "url": "https://www.uniprot.org/uniprot/P24001", "type": "external" } ], "mass": 26676.0, "length": 234, "protein_name": "Interleukin-32", "gene_name": "IL32", "organism": "Human", "refseq_name": "interleukin-32 isoform B", "refseq_ac": [ { "id": "NP_001012649", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012649", "type": "external" } ], "gene_names_uniprotkb": "IL32; NK4; TAIF", "gene_names_refseq": "IL-32alpha; IL-32beta; IL-32delta; IL-32gamma; IL32; NK4; TAIFa; TAIFb; TAIFc; TAIFd; TAIF", "protein_names_uniprotkb": "Interleukin-32; IL-32; Natural killer cells protein 4; Tumor necrosis factor alpha-inducing factor", "protein_names_refseq": "interleukin-32 eta; interleukin-32 isoform B; interleukin-32 small; interleukin-32 theta; natural killer cell transcript 4; natural killer cells protein 4; tumor necrosis factor alpha-inducing factor", "tax_id": 9606, "disease": "IgG4-related disease (Disease Ontology:DOID:0080356); human cytomegalovirus infection (Disease Ontology:DOID:0080827); stomach cancer (Disease Ontology:DOID:10534); osteoporosis (Disease Ontology:DOID:11476); paracoccidioidomycosis (Disease Ontology:DOID:12662); chronic cervicitis (Disease Ontology:DOID:1513); hepatitis B (Disease Ontology:DOID:2043); colon cancer (Disease Ontology:DOID:219); hidradenitis suppurativa (Disease Ontology:DOID:2280); multiple sclerosis (Disease Ontology:DOID:2377); Mycobacterium avium complex disease (Disease Ontology:DOID:2755); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); pulmonary tuberculosis (Disease Ontology:DOID:2957); atopic dermatitis (Disease Ontology:DOID:3310); gastritis (Disease Ontology:DOID:4029); bacterial gastritis (Disease Ontology:DOID:4033); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); pneumonia (Disease Ontology:DOID:552); hepatocellular carcinoma (Disease Ontology:DOID:684); herpes simplex (Disease Ontology:DOID:8566); neuromyelitis optica (Disease Ontology:DOID:8869); psoriasis (Disease Ontology:DOID:8893); cutaneous leishmaniasis (Disease Ontology:DOID:9111); visceral leishmaniasis (Disease Ontology:DOID:9146)", "pathway": " (hsa:9235); (R-HSA-449836); (R-HSA-9013423)", "pathway_count": 3, "publication_count": 118, "publication_id_list": "10395686;10438516;10618392;11237011;11704860;11956649;12469119;12558796;14675773;15664165;16341674;16410314;16488976;16492764;16777452;17074750;1729377;17765681;18467591;18697831;19269969;19534724;2147944;21716315;23255595;23291588;23481700;23744080;23783831;24397554;24715725;25502872;25576301;25662098;25802875;25862245;25880248;25892735;26095744;26154972;26375851;26628301;26992070;27452731;27481945;27713499;27862975;27893789;27920218;28218747;28228285;28352266;28356423;28514659;28649982;28832583;28904123;29242379;29317506;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30833945;31154438;31217245;31530632;31844290;31848261;31871319;31937595;31998317;32157095;32350084;32357974;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33717175;33912179;33936100;33968037;34171305;34185709;34211107;34357683;34932366;35051231;35154160;35580925;36010968;36241641;36284347;37938771;38232700;38316697;39101465;39118084;39178518;7615501;7805849;9252344;9422780", "class_list": "", "function": "Cytokine that may play a role in innate and adaptive immune responses. It induces various cytokines such as TNFA/TNF and IL8. It activates typical cytokine signal pathways of NF-kappa-B and p38 MAPK., [UniProtKB, PubMed]; IL-32 aggravates metabolic disturbance in human nucleus pulposus cells by activating FAT4-mediated Hippo/YAP signaling. Erratum:[Int Immunopharmacol. 2024 Dec 5;142(Pt A):113049. doi: 10.1016/j.intimp.2024.113049. PMID: 39294029], [RefSeq, PubMed]; IL-32 production from lung adenocarcinoma cells is potentially involved in immunosuppressive microenvironment., [RefSeq, PubMed]; IL-32 regulates trophoblast invasion through miR-205-NFkappaB-MMP2/9 axis contributing to the pregnancy-induced hypertensiondagger. Erratum:[Biol Reprod. 2025 Sep 15;113(3):704-707. doi: 10.1093/biolre/ioaf176. PMID: 40761000], [RefSeq, PubMed]; IL32 downregulation lowers triglycerides and type I collagen in di-lineage human primary liver organoids., [RefSeq, PubMed]; MTOR activation induces endolysosomal remodeling and nonclassical secretion of IL-32 via exosomes in inflammatory reactive astrocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Results strongly indicate that IL-32 is involved in activation-induced cell death in T cells, probably via its intracellular actions, [RefSeq, PubMed]; This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 25, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NNM0;A8MPX0;B4DJM1;B8Q191;D3DUB0;D3DUB2;Q5VFH7;Q5VFH8;Q8WV38;Q96GK9", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0034346 positive regulation of type III interferon production;GO:0006952 defense response;GO:0006955 immune response;GO:0007155 cell adhesion;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "P24001-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12532-1", "uniprot_id": [ { "id": "KCRU_HUMAN", "url": "https://www.uniprot.org/uniprot/P12532", "type": "external" } ], "mass": 47037.0, "length": 417, "protein_name": "Creatine kinase U-type, mitochondrial", "gene_name": "CKMT1A; CKMT1B", "organism": "Human", "refseq_name": "creatine kinase U-type, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_001015001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001", "type": "external" } ], "gene_names_uniprotkb": "CKMT1A; CKMT1B; CKMT1B; CKMT", "gene_names_refseq": "CKMT1A; CKMT1; U-MtCK; mia-CK", "protein_names_uniprotkb": "Creatine kinase U-type, mitochondrial; 2.7.3.2; Acidic-type mitochondrial creatine kinase; Mia-CK; U-MtCK; Ubiquitous mitochondrial creatine kinase", "protein_names_refseq": "acidic-type mitochondrial creatine kinase; creatine kinase U-type, mitochondrial isoform 1 precursor; creatine kinase U-type, mitochondrial; creatine kinase, mitochondrial 1 (ubiquitous); ubiquitous mitochondrial creatine kinase", "tax_id": 9606, "disease": "status epilepticus (Disease Ontology:DOID:1824)", "pathway": " (hsa:1159); (hsa:548596); (R-HSA-71288)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "10737943;11237011;11555793;12889669;15044463;16981706;18083107;20068231;2324105;26992070;28228285;2914937;29557506;29786170;30429286;30779550;31222486;31844290;32157095;32938616;33592498;35008409;35051231;35083852;35561310;35705641;36241641;36284347;36843552;37938771;37954502;38253038;38615320;40596516;7945388;8651275;9148748;9218780;9722522", "class_list": "", "function": "A Zeb1/MtCK1 metabolic axis controls osteoclast activation and skeletal remodeling., [RefSeq, PubMed]; An integrative pan-cancer analysis of molecular characteristics and oncogenic role of mitochondrial creatine kinase 1A (CKMT1A) in human tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Ckmt1 is Dispensable for Mitochondrial Bioenergetics Within White/Beige Adipose Tissue. Publication Status: Online-Only, [RefSeq, PubMed]; Context-dependent roles for ubiquitous mitochondrial creatine kinase CKMT1 in breast cancer progression., [RefSeq, PubMed]; Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]., [RefSeq]; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4DIT8;B7ZA09;Q0VAM3;Q32NF6;Q53FC4", "ec_number_list": [ { "id": "2.7.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.3.2", "type": "external" } ], "go_molecular_function": "GO:0004111 creatine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0046314 phosphocreatine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "P12532-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MM6-1", "uniprot_id": [ { "id": "HS12B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MM6", "type": "external" } ], "mass": 75688.0, "length": 686, "protein_name": "Heat shock 70 kDa protein 12B", "gene_name": "HSPA12B", "organism": "Human", "refseq_name": "heat shock 70 kDa protein 12B isoform 2", "refseq_ac": [ { "id": "NP_001184256", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184256", "type": "external" } ], "gene_names_uniprotkb": "HSPA12B; C20orf60", "gene_names_refseq": "C20orf60; HSPA12B", "protein_names_uniprotkb": "Heat shock 70 kDa protein 12B; Heat shock protein family A member 12B", "protein_names_refseq": "heat shock 70 kDa protein 12B isoform 2; heat shock 70 kDa protein 12B; heat shock protein family A member 12B", "tax_id": 9606, "disease": "", "pathway": " (hsa:116835); (R-HSA-3371453)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "10954706;11237011;11747420;12552099;12853476;12917326;12974469;15364926;15802566;1586970;16278218;1754405;17601350;18235501;18235502;18550409;18977241;19229036;19913121;19914676;22465953;22541429;22735644;22940245;23349863;24275569;26992070;27862975;29115487;29557506;31154438;31844290;31848261;32157095;32457753;35051231;35580925;7585962;8721986;8946918;9305631;9873016;9920933", "class_list": "", "function": "MiR4505 downregulates the expression of HSPA12B and aggravates the LPSinduced vascular endothelial cell injury., [RefSeq, PubMed]; Novel Role of Endothelial Derived Exosomal HSPA12B in Regulating Macrophage Inflammatory Responses in Polymicrobial Sepsis. Publication Status: Online-Only, [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]; The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DVX7;Q2TAK3;Q9BR52", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q96MM6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16871-1", "uniprot_id": [ { "id": "IL7RA_HUMAN", "url": "https://www.uniprot.org/uniprot/P16871", "type": "external" } ], "mass": 51579.0, "length": 459, "protein_name": "Interleukin-7 receptor subunit alpha", "gene_name": "IL7R", "organism": "Human", "refseq_name": "interleukin-7 receptor subunit alpha isoform 1 precursor", "refseq_ac": [ { "id": "NP_002176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002176", "type": "external" } ], "gene_names_uniprotkb": "IL7R", "gene_names_refseq": "CD127; CDW127; IL-7R-alpha; IL-7Ralpha; IL7RA; IL7Ralpha; IL7R; ILRA; IMD104; lnc-IL7R; sIL-7R", "protein_names_uniprotkb": "Interleukin-7 receptor subunit alpha; CDw127; IL-7 receptor subunit alpha; IL-7R subunit alpha; IL-7R-alpha; IL-7RA", "protein_names_refseq": "CD127 antigen; IL-7 receptor subunit alpha; IL-7R subunit alpha; interleukin 7 receptor alpha chain; interleukin-7 receptor subunit alpha isoform 1 precursor; interleukin-7 receptor subunit alpha; soluble interleukin-7 receptor", "tax_id": 9606, "disease": "severe combined immunodeficiency 104 (Disease Ontology:DOID:0090014); stomach cancer (Disease Ontology:DOID:10534); colon cancer (Disease Ontology:DOID:219); multiple sclerosis (Disease Ontology:DOID:2377); middle cerebral artery infarction (Disease Ontology:DOID:3525); lung non-small cell carcinoma (Disease Ontology:DOID:3908); severe combined immunodeficiency (Disease Ontology:DOID:627); malignant pleural mesothelioma (Disease Ontology:DOID:7474)", "pathway": " (hsa:3575); (R-HSA-1266695); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 4, "publication_count": 262, "publication_id_list": "10.1101/2023.09.13.557529;10097102;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11023514;11071885;11076969;11082044;11231140;11237011;11239472;11247302;11418668;11454741;11470803;11516654;11517213;11532990;11564764;11577110;11588219;11728342;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12184921;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12847086;12889071;12944396;12952949;12958364;1317852;14555962;14581451;14593182;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15318165;15339664;15353558;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15749844;15802264;15895077;15916959;16103228;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;17018281;17035995;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17660817;17675186;17681954;17713526;17762867;17765681;17924679;17978091;18032517;18093523;18166656;18199683;18388313;1847920;18775314;18790740;18819912;18981233;19092055;19140243;19141282;19287005;19296720;19458185;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;19864382;20033059;20059951;20211604;20231386;20351096;2038316;20428113;20448150;20826345;20946875;21102408;21105711;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22464331;22484487;22505844;2257624;22815487;22863004;22942912;2317865;23297414;23536704;23823722;23861397;23891661;24130457;24186068;24190977;24384571;24417533;24581490;24680432;24746795;24789820;24966051;25107275;25303366;25341920;26042225;26301565;26403691;26829388;26974155;27423467;27862975;28649982;28832583;2890644;29139090;29242379;29493099;29557506;31748347;31918398;32157095;32502341;32938616;32983136;33043033;33592498;3417785;34357683;35051231;35580925;36241641;38082310;38104284;38723105;38862034;38956225;39311660;6146630;7489741;7514277;7522165;7569928;7719938;7822302;7877694;8128231;8266077;8524399;8552632;8553074;8702919;8709637;8837779;9092476;9100026;9169477;9233603;9303539;9398404;9427626;9428629;9553136;9635431;9715265;9723620;9736607;9812899;9843216", "class_list": "", "function": "A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report. Publication Status: Online-Only, [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]; Investigation of the IL7Ralpha Gene Polymorphism rs6897932 and the Expression Levels of the CDH1, TTPAL, and FHIT Genes in Patients with Breast Cancer., [RefSeq, PubMed]; Lrp10 suppresses IL7R limiting CD8 T cell homeostatic expansion and anti-tumor immunity., [RefSeq, PubMed]; Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP)., [UniProtKB]; The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]., [RefSeq]; Type B thymomas in patients with myasthenia gravis display a distinctive pattern of alphabeta TCR and IL-7 receptor alpha expression on CD4[+]CD8[+] thymocytes., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 69, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RCS6;B4DVT1;Q05CU8;Q6NSP4;Q6NWM0;Q6NWM1;Q6NWM2;Q6NWM3;Q6SV45;Q9UPC1", "ec_number_list": [], "go_molecular_function": "GO:0004917 interleukin-7 receptor activity;GO:0003823 antigen binding;GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0030669 clathrin-coated endocytic vesicle membrane", "go_biological_process": "GO:0000018 regulation of DNA recombination;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 26.7, "record_id": "P16871-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14681-1", "uniprot_id": [ { "id": "KCTD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14681", "type": "external" } ], "mass": 28527.0, "length": 263, "protein_name": "BTB/POZ domain-containing protein KCTD2", "gene_name": "KCTD2", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD2", "refseq_ac": [ { "id": "NP_056168", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056168", "type": "external" } ], "gene_names_uniprotkb": "KCTD2; KIAA0176", "gene_names_refseq": "KCTD2", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD2; Potassium channel tetramerization domain-containing protein 2", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD2; potassium channel tetramerisation domain containing 2; potassium channel tetramerization domain-containing protein 2", "tax_id": 9606, "disease": "myoclonic dystonia (Disease Ontology:DOID:0090033)", "pathway": " (hsa:23510)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;23186163;23857120;27846572;28904123;31217245;31844290;32157095;32161166;32387766;32897882;32938616;33691108;33912179;33968037;33981976;34509645;35051231;35561310;35580925;38732215", "class_list": "", "function": "By merging results of a meta-GWAS, results in the CHARGE consortium data sets and an in vivo genotyping comprising 4501 individuals, detected a novel locus ATP5H/KCTD2 associated with Alzheimer's disease risk, [RefSeq, PubMed]; KCTD Proteins Have Redundant Functions in Controlling Cellular Growth. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0097602 cullin family protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q14681-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBG6-1", "uniprot_id": [ { "id": "IF122_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBG6", "type": "external" } ], "mass": 141825.0, "length": 1241, "protein_name": "Intraflagellar transport protein 122 homolog", "gene_name": "IFT122", "organism": "Human", "refseq_name": "intraflagellar transport protein 122 homolog isoform 5", "refseq_ac": [ { "id": "NP_001267470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267470", "type": "external" } ], "gene_names_uniprotkb": "IFT122; SPG; WDR10; WDR140", "gene_names_refseq": "CED1; CED; CFAP80; FAP80; IFT122; SPG; WDR10p; WDR10; WDR140", "protein_names_uniprotkb": "Intraflagellar transport protein 122 homolog; WD repeat-containing protein 10; WD repeat-containing protein 140", "protein_names_refseq": "WD repeat domain 10; WD repeat-containing protein 10; WD repeat-containing protein 140; intraflagellar transport 122 homolog; intraflagellar transport protein 122 homolog isoform 5", "tax_id": 9606, "disease": "cranioectodermal dysplasia (Disease Ontology:DOID:0050577); cranioectodermal dysplasia 1 (Disease Ontology:DOID:0080803); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:55764); (R-HSA-5610787); (R-HSA-5620924)", "pathway_count": 3, "publication_count": 193, "publication_id_list": "10069812;10966113;11237011;11242542;11285270;11375483;12192414;12435627;12795688;14603322;15087129;15231740;15269286;15489852;15523559;15930098;15955805;16049494;16061793;16136078;16229832;16254602;16311594;16339192;16396903;16435301;16492809;16493421;16707575;16775004;16782012;17027958;17200122;17312020;17314406;17442700;17553904;17574030;17641202;17762891;17960137;18180368;18304522;18327258;18364699;18369462;18455992;18832070;18852297;19000668;19112494;19147001;19196978;19223390;19253336;19286674;19365551;19384852;19450523;19549984;19592253;19666503;19720863;19767740;19776033;19805633;19877275;19906846;19948480;19996169;20067783;20154143;20207148;20395968;20412786;20435895;20460306;20493458;20526327;20526328;20530210;20844016;20889716;20956384;2105456;21209331;21427764;21695114;21801010;21936775;22007132;22118932;22231273;22391300;22922713;22992454;23209152;23332756;23719536;23826986;23945166;23990561;24140113;24296415;24302888;24339784;24596149;24616010;24689072;24845016;24863049;24917297;24925320;24952464;25205765;25349261;25443296;25576301;25645385;25880248;25892735;26375851;26792575;26992070;27600516;27846572;27862975;27920218;27932497;28218747;28228285;28832583;28834231;28855257;28904123;29220510;29242379;29314611;29331515;29393594;29493099;29557506;29632711;29769354;29786170;29789417;30315122;30429286;30476139;30779550;31154438;31222486;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33298915;33392160;33537174;33592498;33717175;33912179;33968037;33981976;34087483;34185709;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;36775821;37938771;39894887;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is required in ciliogenesis and ciliary protein trafficking. Involved in cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]; We found a homozygous missense mutation in the IFT122 (WDR10) gene that cosegregated with Sensenbrenner 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": 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": "B3KW53;B4DEY9;B4DPW7;E7EQF4;E9PDG2;E9PDX2;G3XAB1;H7C3C0;Q53G36;Q8TC06;Q9BTB9;Q9BTY4;Q9HAT9;Q9HBG5;Q9NV68;Q9UF80", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0016020 membrane;GO:0097730 non-motile cilium;GO:0036064 ciliary basal body;GO:0032391 photoreceptor connecting cilium", "go_biological_process": "GO:0060971 embryonic heart tube left/right pattern formation;GO:0010172 embryonic body morphogenesis;GO:0021513 spinal cord dorsal/ventral patterning;GO:0072594 establishment of protein localization to organelle;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 19.6, "record_id": "Q9HBG6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60303-1", "uniprot_id": [ { "id": "KATIP_HUMAN", "url": "https://www.uniprot.org/uniprot/O60303", "type": "external" } ], "mass": 180918.0, "length": 1618, "protein_name": "Katanin-interacting protein", "gene_name": "KATNIP", "organism": "Human", "refseq_name": "katanin-interacting protein", "refseq_ac": [ { "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017", "type": "external" } ], "gene_names_uniprotkb": "KATNIP; KIAA0556", "gene_names_refseq": "JBTS26; KATNIP; KIAA0556", "protein_names_uniprotkb": "Katanin-interacting protein", "protein_names_refseq": "katanin-interacting protein", "tax_id": 9606, "disease": "Joubert syndrome 26 (Disease Ontology:DOID:0110995)", "pathway": " (hsa:23247)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;18669648;22706990;23186163;23481700;24715725;25576301;25645385;25880248;26714646;26992070;27245168;27846572;28228285;28832583;28834231;28904123;29242379;29493099;29557506;29789417;30237576;30315122;30429286;31197031;31844290;32157095;32164589;32357974;32387766;32488085;32938616;33298915;33537174;33912179;33936100;33968037;34087483;34171305;34405274;34509645;34561969;35051231;35580925;36010968;36241641;36581221;37217939;37665596", "class_list": "", "function": "Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; KIAA0556 mutation identified in patients with Joubert syndrome. KIAA0556 binds to microtubules, p60/p80 katanins and genetically interacts with ARL13B. Publication Status: Online-Only, [RefSeq, PubMed]; May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex., [UniProtKB, PubMed]; Pathogenic germline variants of KIAA0556 associated with hypothalamic hamartoma were found., [RefSeq, PubMed]; The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia., [RefSeq, PubMed]; This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]., [RefSeq]; Whole exome sequencing in a multiplex consanguineous family from India revealed a KIAA0556 homozygous single base pair deletion mutation (c.4420del; p.Met1474Cysfs*11). Knockdown of the gene in zebrafish resulted in a ciliopathy phenotype, rescued by co-injection of wildtype cDNA, [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": 42, "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": "A7E2C2", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0015631 tubulin binding;GO:0120170 intraciliary transport particle B binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005929 cilium;GO:0005930 axoneme;GO:0036064 ciliary basal body;GO:0097546 ciliary base", "go_biological_process": "GO:1905504 negative regulation of motile cilium assembly", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "O60303-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNH6-1", "uniprot_id": [ { "id": "SNX7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNH6", "type": "external" } ], "mass": 45303.0, "length": 387, "protein_name": "Sorting nexin-7", "gene_name": "SNX7", "organism": "Human", "refseq_name": "sorting nexin-7 isoform a", "refseq_ac": [ { "id": "NP_057060", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057060", "type": "external" } ], "gene_names_uniprotkb": "SNX7", "gene_names_refseq": "SNX7", "protein_names_uniprotkb": "Sorting nexin-7", "protein_names_refseq": "sorting nexin-7 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:51375)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;11485546;25576301;25892735;26375851;27600516;29080748;29393594;29786170;30429286;30833945;31530632;31844290;31848261;32157095;32387766;32488085;32513819;32938616;33392160;33592498;33717175;33968037;33981976;34087483;35051231;35494241;35580925;36010968;36241641;37938771", "class_list": "", "function": "Involved in the regulation of endocytosis and in several stages of intracellular trafficking (PubMed:32513819). Together with SNX4, involved in autophagosome assembly by regulating trafficking and recycling of phospholipid scramblase ATG9A (PubMed:32513819)., [UniProtKB, PubMed]; Overexpression of SNX7 in HEK293T cells reduces the levels of secreted Abeta and beta-cleaved N-terminal APP fragments (sAPPbeta). Moreover, SNX7 overexpression caused a significant reduction of the steady-state levels of APP as well as of the cell surface APP levels., [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region like some family members, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8KAF3;D3DT50;Q53FQ3;Q5VT09;Q5VT10;Q86U82;Q8WVD4;Q96FW9;Q9Y3Z7", "ec_number_list": [], "go_molecular_function": "GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005769 early endosome;GO:0031901 early endosome membrane;GO:0000407 phagophore assembly site", "go_biological_process": "GO:0015031 protein transport;GO:0000423 mitophagy;GO:0032456 endocytic recycling;GO:0034727 piecemeal microautophagy of the nucleus;GO:0061709 reticulophagy", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9UNH6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P38484-1", "uniprot_id": [ { "id": "INGR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P38484", "type": "external" } ], "mass": 37806.0, "length": 337, "protein_name": "Interferon gamma receptor 2", "gene_name": "IFNGR2", "organism": "Human", "refseq_name": "interferon gamma receptor 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_005525", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005525", "type": "external" } ], "gene_names_uniprotkb": "IFNGR2; IFNGT1", "gene_names_refseq": "AF-1; IFGR2; IFNGR2; IFNGT1; IMD28", "protein_names_uniprotkb": "Interferon gamma receptor 2; AF-1; IFN-gamma receptor 2; IFN-gamma-R-beta; IFN-gamma-R2; Interferon gamma receptor accessory factor 1; Interferon gamma receptor beta-chain; Interferon gamma transducer 1", "protein_names_refseq": "IFN-gamma receptor 2; IFN-gamma-R-beta; IFN-gamma-R2; interferon gamma receptor 2 isoform 2 precursor; interferon gamma receptor accessory factor-1; interferon gamma receptor beta chain; interferon gamma transducer 1", "tax_id": 9606, "disease": "immunodeficiency 28 (Disease Ontology:DOID:0111995); congenital heart disease (Disease Ontology:DOID:1682); pulmonary tuberculosis (Disease Ontology:DOID:2957); acute myocardial infarction (Disease Ontology:DOID:9408); allergic asthma (Disease Ontology:DOID:9415); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:3460); (R-HSA-877300); (R-HSA-877312); (R-HSA-9679191); (R-HSA-9732724)", "pathway_count": 5, "publication_count": 120, "publication_id_list": "10.1101/2023.09.13.557529;10064597;10067896;10087012;10421843;10605012;10608793;10805787;10986460;11237011;11972023;12040185;12438563;12446674;12855578;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15356148;15388922;15530433;15924140;16115318;16237089;16467876;16522641;17125875;17662961;17924679;18031232;18362138;18591661;20049711;20130243;20223979;20304997;20363976;22401777;22552008;22814904;22902943;23061660;23481700;23641311;23963039;24272870;24417533;24584101;25502872;25801024;26002965;26154972;27599734;27920218;28228285;28425720;28446606;28467828;28514659;28904123;29242379;29508533;29632711;29769354;29786170;29945920;30201761;30814731;31020640;31048504;31222290;31530632;31844290;32161166;32350084;32387766;32983136;33043033;33239784;33260695;33298915;33912179;33936100;33968037;33981976;34087483;34357683;34433824;34932366;35051231;35154160;35580925;36010968;36639711;37074911;38972102;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8124716;8156998;8176225;8483949;8530158;8550631;8631301;8910544;9111318;9143706;9446616", "class_list": "", "function": "A purely quantitative form of partial recessive IFN-gammaR2 deficiency caused by mutations of the initiation or second codon. Erratum:[Hum Mol Genet. 2019 Feb 1;28(3):524. doi: 10.1093/hmg/ddy357. PMID: 30329057], [RefSeq, PubMed]; Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:7673114, PubMed:8124716). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:15356148, PubMed:7673114, PubMed:8124716). Required for signal transduction in contrast to other receptor subunit responsible for ligand binding (PubMed:7673114)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; CircIFNGR2 enhances proliferation and migration of CRC and induces cetuximab resistance by indirectly targeting KRAS via sponging to MiR-30b. Publication Status: Online-Only, [RefSeq, PubMed]; Impact of coding risk variant IFNGR2 on the B cell-intrinsic IFN-gamma signaling pathway in multiple sclerosis., [RefSeq, PubMed]; Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [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": 6, "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": 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": 2, "reported_phosphosites": 1, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 6, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q9BTL5", "ec_number_list": [], "go_molecular_function": "GO:0004906 type II interferon receptor activity;GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0001774 microglial cell activation;GO:0007166 cell surface receptor signaling pathway;GO:0060333 type II interferon-mediated signaling pathway;GO:0009615 response to virus;GO:0098586 cellular response to virus", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "P38484-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13951-1", "uniprot_id": [ { "id": "PEBB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13951", "type": "external" } ], "mass": 21508.0, "length": 182, "protein_name": "Core-binding factor subunit beta", "gene_name": "CBFB", "organism": "Human", "refseq_name": "core-binding factor subunit beta isoform 2", "refseq_ac": [ { "id": "NP_001746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001746", "type": "external" } ], "gene_names_uniprotkb": "CBFB", "gene_names_refseq": "CBFB; CLCD2; PEBP2B", "protein_names_uniprotkb": "Core-binding factor subunit beta; CBF-beta; PEA2-beta; PEBP2-beta; Polyomavirus enhancer-binding protein 2 beta subunit; SL3-3 enhancer factor 1 subunit beta; SL3/AKV core-binding factor beta subunit", "protein_names_refseq": "CBF-beta; PEA2-beta; PEBP2-beta; SL3-3 enhancer factor 1 beta subunit; SL3-3 enhancer factor 1 subunit beta; SL3/AKV core-binding factor beta subunit; core-binding factor subunit beta isoform 2; polyomavirus enhancer binding protein 2, beta subunit", "tax_id": 9606, "disease": "acute myelomonocytic leukemia (Disease Ontology:DOID:0081082); cleidocranial dysplasia (Disease Ontology:DOID:13994); hepatocellular carcinoma (Disease Ontology:DOID:684); cleidocranial dysplasia 2 (MONDO:MONDO:0859307)", "pathway": " (hsa:865); (R-HSA-8877330); (R-HSA-8878166); (R-HSA-8931987); (R-HSA-8934593); (R-HSA-8935964); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-8939242); (R-HSA-8939243); (R-HSA-8939245); (R-HSA-8939246); (R-HSA-8939247); (R-HSA-8939256); (R-HSA-8939902); (R-HSA-8940973); (R-HSA-8941284); (R-HSA-8941326); (R-HSA-8941332); (R-HSA-8941333); (R-HSA-8941858); (R-HSA-8949275); (R-HSA-8951911); (R-HSA-8951936); (R-HSA-9018519); (R-HSA-9616222)", "pathway_count": 26, "publication_count": 350, "publication_id_list": "10207087;10215629;10233885;10330422;10404215;10455134;10500157;10533284;10572046;10617663;10828826;10856244;10873660;10911365;11010967;11034064;11103799;11106645;11136970;11165043;11237011;11242107;11276260;11340171;11345900;11369759;11410592;11452016;11545733;11564866;11581164;11682626;11684017;11847229;11857736;11867521;12000792;12091906;12172539;12220513;12231506;12242300;12391164;12434152;12434156;12483298;12498683;12504904;12529404;12576332;12612073;12702500;12738770;12809493;12855590;12869508;12923053;12959972;14517214;14561740;14631847;14675539;14765127;14970218;15001666;15030764;15107406;15138260;15276198;15282324;15331439;15343269;15345050;15514030;15537544;15678106;15688019;15703179;15986123;16009131;16025100;16046058;16087863;16099986;16113099;16115867;16140942;16164020;16287839;1630819;16407259;16421188;16628190;16728642;16751105;16751774;16873067;16917507;16959974;16980581;17013392;17063141;17081983;17142326;17171635;17215250;17237358;17277772;17377532;17431401;17442891;17463000;17495528;17510434;17562868;17589498;17637753;17666587;17690249;17786208;18187655;18219272;18223689;18256232;18280240;18316480;18322535;18358809;18438928;18476782;18477452;18533032;18541707;18695000;18701449;18762174;18776924;18805503;19001364;19020303;19020999;19098913;19114653;19144722;19274700;19295514;19321454;19383337;19389811;19509293;19585539;19718048;19800266;19801668;19808967;20100835;20219941;20220130;20339092;20439113;20498280;20506188;20547749;20570965;20661648;20682797;20686481;20876458;20877012;20887958;21106759;21129147;21151129;21173110;21252065;21445275;21471526;21571218;21573489;21723253;21725049;2181374;21835891;21878914;21913213;21931630;21934649;21940756;21993314;22012064;22056668;22065775;22190037;22265404;22325351;22371011;22422618;22474248;22492511;22544321;22545144;22704330;22759635;22777353;22897851;23001182;23034403;23145106;23172872;23192763;23303788;23333304;23389849;23403054;23403292;23435229;23723241;23906331;23943595;24167369;24229708;24371278;24379003;24388988;24402281;24584857;24715725;24735615;24850862;24854081;24885040;24973012;24998469;25043025;2524830;25260729;25296600;25365482;25394790;25418920;25433557;25452107;25542856;25562167;25576301;25633194;25663755;25674852;25728767;25784653;25865393;26004068;26010396;26056233;26060017;26060100;26091038;26153859;26204489;26414766;26462610;26479350;26716895;26735887;26749280;26778333;26916619;26967290;26992070;27062924;27137657;2721961;27317874;27797343;27886276;27920218;28218747;28510447;28539435;28649982;28832583;2919170;29242379;29431622;29437277;29493099;29508533;29557506;30315122;30410026;3045126;31373491;31792451;31844290;32157095;32161166;32350084;32357974;3281094;32938616;32983136;33141586;33298915;33717175;33912179;33936100;33968037;33981976;34019948;3498214;35251023;35580925;35705054;36241386;36241641;36476886;36598981;36754086;3677090;36799863;36831308;37419875;37640699;38665916;40307207;40596516;7559524;7607682;7862113;7891679;7935485;7937828;8195246;8197458;8351518;8386878;8419924;8695841;8846917;8876171;9177240;9182762;9182764;9201922;9207800;9338790;9388265;9611253;9671459;9731700", "class_list": "", "function": "(Microbial infection) Following infection, hijacked by the HIV-1 Vif protein, leading to the formation a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex) that catalyzes ubiquitination and degradation of APOBEC3F and APOBEC3G (PubMed:22190037, PubMed:31792451, PubMed:36598981, PubMed:36754086, PubMed:37419875). The complex can also ubiquitinate APOBEC3H to some extent (PubMed:37640699). Association with HIV-1 Vif protein also inhibits the transcription coactivator activity of CBFB/CBF-beta (PubMed:22190037)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Dysregulation of Mitochondrial Translation Caused by CBFB Deficiency Cooperates with Mutant PIK3CA and Is a Vulnerability in Breast Cancer., [RefSeq, PubMed]; Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia., [RefSeq, PubMed]; The RUNX/CFBbeta Complex in Breast Cancer: A Conundrum of Context. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; [Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFbeta-MYH11 Positive]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 10, "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": "A8K347;Q13124;Q9HCT2", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0016513 core-binding factor complex;GO:0005634 nucleus", "go_biological_process": "GO:0043371 negative regulation of CD4-positive, alpha-beta T cell differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006366 transcription by RNA polymerase II;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 35.3, "record_id": "Q13951-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C870-1", "uniprot_id": [ { "id": "JMJD7_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C870", "type": "external" } ], "mass": 35932.0, "length": 316, "protein_name": "Bifunctional peptidase and (3S)-lysyl hydroxylase JMJD7", "gene_name": "JMJD7", "organism": "Human", "refseq_name": "bifunctional peptidase and (3S)-lysyl hydroxylase JMJD7", "refseq_ac": [ { "id": "NP_001108104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108104", "type": "external" } ], "gene_names_uniprotkb": "JMJD7", "gene_names_refseq": "JMJD7", "protein_names_uniprotkb": "Bifunctional peptidase and (3S)-lysyl hydroxylase JMJD7; 1.14.11.63; 3.4.-.-; JmjC domain-containing protein 7; Jumonji domain-containing protein 7; L-lysine (3S)-hydroxylase JMJD7", "protein_names_refseq": "L-lysine (3S)-hydroxylase JMJD7; bifunctional peptidase and (3S)-lysyl hydroxylase JMJD7; jmjC domain-containing protein 7; jumonji domain-containing protein 7", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:100137047); (R-HSA-9629569)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "11237011;1378441;15676025;17947579;1856229;19574390;19819225;19913121;20684070;21060799;22851697;23033978;23103944;23303181;23481700;24100311;24486019;24550447;24550462;24550463;25576301;25728928;28832583;28847961;29563586;29914368;29915238;31844290;32157095;32387766;32938616;32983136;33298915;33968037;33981976;34509645;35410347;36010968;39276004;6688526", "class_list": "", "function": "Bifunctional enzyme that acts both as an endopeptidase and 2-oxoglutarate-dependent monooxygenase (PubMed:28847961, PubMed:29915238). Endopeptidase that cleaves histones N-terminal tails at the carboxyl side of methylated arginine or lysine residues, to generate 'tailless nucleosomes', which may trigger transcription elongation (PubMed:28847961). Preferentially recognizes and cleaves monomethylated and dimethylated arginine residues of histones H2, H3 and H4 (PubMed:28847961). After initial cleavage, continues to digest histones tails via its aminopeptidase activity (PubMed:28847961). Additionally, may play a role in protein biosynthesis by modifying the translation machinery (PubMed:29915238). Acts as a Fe(2+) and 2-oxoglutarate-dependent monooxygenase, catalyzing (S)-stereospecific hydroxylation at C-3 of 'Lys-22' of DRG1 and 'Lys-21' of DRG2 translation factors (TRAFAC), promoting their interaction with ribonucleic acids (RNA) (PubMed:29915238)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Substrate selectivity and inhibition of the human lysyl hydroxylase JMJD7., [RefSeq, PubMed]; This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A5D6V5;O95712;Q59GF9;Q8TB10;Q9UKV7", "ec_number_list": [ { "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": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0046872 metal ion binding;GO:0004177 aminopeptidase activity;GO:0016706 2-oxoglutarate-dependent dioxygenase activity;GO:0004497 monooxygenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0017185 peptidyl-lysine hydroxylation;GO:0018126 protein hydroxylation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "P0C870-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HW7-1", "uniprot_id": [ { "id": "INT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HW7", "type": "external" } ], "mass": 108171.0, "length": 963, "protein_name": "Integrator complex subunit 4", "gene_name": "INTS4", "organism": "Human", "refseq_name": "integrator complex subunit 4", "refseq_ac": [ { "id": "NP_291025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_291025", "type": "external" } ], "gene_names_uniprotkb": "INTS4; MSTP093", "gene_names_refseq": "INT4; INTS4; MST093", "protein_names_uniprotkb": "Integrator complex subunit 4; Int4", "protein_names_refseq": "MSTP093; integrator complex subunit 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:92105); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 127, "publication_id_list": "10.1101/2023.09.13.557529;10022900;11237011;11856838;12414730;12574128;14701755;1535687;16239144;16308568;16901896;1739980;18079403;1829677;19667075;20068231;20457598;2125285;22137580;22231121;22250197;22252320;22424782;22441827;22544926;23166507;23481700;23904267;23932780;24097444;24270878;24715725;24997600;25114211;25218447;25418920;25576301;25645385;25675981;25755297;26154972;26375851;26929215;26992070;27600516;27846572;27862975;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;2944599;29471365;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30379171;30429286;30524438;31154438;31217245;31492838;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33243860;33298915;33392160;33548203;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34762484;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36869814;37938771;38570683;39032489;39032490;40596516;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:29471365, PubMed:33243860, PubMed:33548203, PubMed:38570683). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:33243860, PubMed:38570683). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:16239144). Within the integrator complex, INTS4 acts as an scaffold that links INTS9 and INTS11 (PubMed:29471365, PubMed:33548203). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex (PubMed:23904267)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Findings demonstrate that the integrator complex is essential for snRNA maturation and Cajal body homeostasis, [RefSeq, PubMed]; INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 2, "reported_glycation": 0, "reported_snv": 24, "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": "Q2YD62;Q6PJG4;Q7Z4E7;Q96G32;Q96GA1;Q9BRC0", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0032039 integrator complex", "go_biological_process": "GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0016180 snRNA processing;GO:0160240 RNA polymerase II transcription initiation surveillance", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q96HW7-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MP8-1", "uniprot_id": [ { "id": "KCTD7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MP8", "type": "external" } ], "mass": 33132.0, "length": 289, "protein_name": "BTB/POZ domain-containing protein KCTD7", "gene_name": "KCTD7", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD7 isoform 2", "refseq_ac": [ { "id": "NP_001161433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161433", "type": "external" } ], "gene_names_uniprotkb": "KCTD7", "gene_names_refseq": "CLN14; EPM3; KCTD7", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD7", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD7 isoform 2; BTB/POZ domain-containing protein KCTD7; potassium channel tetramerisation domain containing 7", "tax_id": 9606, "disease": "progressive myoclonus epilepsy 3 (Disease Ontology:DOID:0111446)", "pathway": " (hsa:154881); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 155, "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;17455289;17497243;17785452;18083107;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;22606975;22612257;2261476;22638565;22693283;22748208;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25892735;26344709;26460955;26632597;26906416;27030794;27222660;27565346;27742667;28115426;28832583;28834231;28904123;29153394;29242379;29769354;30315122;30429286;30610225;31844290;32005965;32157095;32161166;32284348;32983136;33444648;35051231;35921411;36964131;37938771;38231304;38732215;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "KCTD Proteins Have Redundant Functions in Controlling Cellular Growth. Publication Status: Online-Only, [RefSeq, PubMed]; KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses., [RefSeq, PubMed]; KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature., [RefSeq, PubMed]; May be involved in the control of excitability of cortical neurons., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that mediates the ubiquitination of multiple substrates, leading to either their proteasomal or lysosomal degradation, or modulating their activity through non-degradative ubiquitination (PubMed:36964131, PubMed:35921411). Regulates voltage-gated potassium channels, thereby modulating hyperpolarizing potassium currents in neurons and inducing potassium-dependent membrane hyperpolarization. Also regulates the neuronal glutamine transporter SLC38A2/SAT2, influencing neurotransmitter precursor availability (PubMed:27742667). Regulates calpain activity via atypical, non-degradative ubiquitination by mediating ubiquitination of CAPN1 via 'Lys6'-, 'Lys27'-, 'Lys29'-, and 'Lys63'-linked chains, and CAPN2 via 'Lys6'-linked chains, thereby preventing calpain autolysis (PubMed:36964131). Promotes lysosomal enzyme trafficking and maintains lysosomal function by acting as an endogenous regulator of CLN5, enhancing its ubiquitination and proteasomal degradation (PubMed:35921411)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]., [RefSeq]; We found a C to T mutation in exon 2 of the potassium channel tetramerization domain containing 7 gene(KCTD7)in a progressive myoclonic epilepsy family affecting a highly conserved segment of the predicted protein changing an arginine codon to a stop., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D2M4;Q8IVR0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0060081 membrane hyperpolarization;GO:0030007 intracellular potassium ion homeostasis;GO:0090461 intracellular glutamate homeostasis", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q96MP8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35908-1", "uniprot_id": [ { "id": "K22E_HUMAN", "url": "https://www.uniprot.org/uniprot/P35908", "type": "external" } ], "mass": 65433.0, "length": 639, "protein_name": "Keratin, type II cytoskeletal 2 epidermal", "gene_name": "KRT2", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 2 epidermal", "refseq_ac": [ { "id": "NP_000414", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000414", "type": "external" } ], "gene_names_uniprotkb": "KRT2; KRT2A; KRT2E", "gene_names_refseq": "CK-2e; K2e; KRT2A; KRT2E; KRT2; KRTE", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 2 epidermal; CK-2e; Cytokeratin-2e; Epithelial keratin-2e; K2e; Keratin-2 epidermis; Keratin-2e; Type-II keratin Kb2", "protein_names_refseq": "cytokeratin-2e; epithelial keratin-2e; keratin 2, type II; keratin, type II cytoskeletal 2 epidermal; keratin-2 epidermis; keratin-2e; type-II keratin Kb2", "tax_id": 9606, "disease": "bullous congenital ichthyosiform erythroderma (Disease Ontology:DOID:0060877); ichthyosis (Disease Ontology:DOID:1697)", "pathway": " (hsa:3849); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "10066784;10084318;10196183;10231017;10233306;10233323;10411887;10564334;10588656;10620137;10688369;10771479;11167982;11350120;11380615;11531804;11590230;12598329;12902340;1380918;14654843;15033990;15337775;15373777;15797384;15803139;15949009;16061697;16382671;16639001;1691188;1694855;1714783;17408392;17515931;17521629;17562024;17596512;18691976;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;23739916;2414304;24397554;25208914;25926655;26375851;26390218;26853435;26992070;27452731;27600516;27726376;27862975;27920218;28228285;28467828;28510447;29314611;29351928;29393594;29508533;29557506;29786170;30315122;30524438;31154438;31844290;32161166;32179842;32350084;32357974;32373127;32387766;32488085;32938616;33043033;33081034;33214551;33298915;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34561969;35051231;35083852;35561310;35580925;36010968;36215666;36241641;36331357;37217939;37938771;39990658;40596516;41018975;7521371;7524919;7543090;8077693;8824274;8999895;9036938;9204966;9395522;9468612;9565599;9804344;9833038", "class_list": "", "function": "Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2., [RefSeq, PubMed]; First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. Publication Status: Online-Only, [RefSeq, PubMed]; Serum lipids, retinoic acid and phenol red differentially regulate expression of keratins K1, K10 and K2 in cultured keratinocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Structural component of intermediate filaments in suprabasal keratinocytes of stratified epidermis. Forms heteropolymers with type I keratins (e.g., KRT10), assembling into keratin intermediate filament networks that support mechanical integrity and resilience of the differentiating epidermis (PubMed:12598329, PubMed:1380918). Contributes to terminal differentiation and cornification of keratinocytes and plays a role in establishing the epidermal barrier (PubMed:9804344)., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "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": "Q4VAQ2", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0008092 cytoskeletal protein binding;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0032980 keratinocyte activation;GO:0051546 keratinocyte migration;GO:0031424 keratinization;GO:0008544 epidermis development;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P35908-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01344-1", "uniprot_id": [ { "id": "IL5RA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01344", "type": "external" } ], "mass": 47685.0, "length": 420, "protein_name": "Interleukin-5 receptor subunit alpha", "gene_name": "IL5RA", "organism": "Human", "refseq_name": "interleukin-5 receptor subunit alpha isoform 1 precursor", "refseq_ac": [ { "id": "NP_000555", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000555", "type": "external" } ], "gene_names_uniprotkb": "IL5RA; IL5R", "gene_names_refseq": "CD125; CDw125; HSIL5R3; IL5RA; IL5R", "protein_names_uniprotkb": "Interleukin-5 receptor subunit alpha; CDw125; IL-5 receptor subunit alpha; IL-5R subunit alpha; IL-5R-alpha; IL-5RA", "protein_names_refseq": "CD125 antigen; IL-5 receptor subunit alpha; IL-5R subunit alpha; interleukin 5 receptor type 3; interleukin 5 receptor, alpha; interleukin-5 receptor alpha chain; interleukin-5 receptor subunit alpha isoform 1 precursor", "tax_id": 9606, "disease": "respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); mastocytosis (Disease Ontology:DOID:350)", "pathway": " (hsa:3568); (R-HSA-512988); (R-HSA-5673001); (R-HSA-912526)", "pathway_count": 4, "publication_count": 106, "publication_id_list": "10207047;10455108;10477686;10477722;10508167;10570274;10869344;10949031;10982827;11027663;11090077;11136978;11237011;11313946;11328862;11340297;11546808;11702783;12032311;12094235;12121613;12842047;1396555;1400495;14506247;1465135;14707138;1495999;15356145;1545823;15546878;16627759;16684964;1702217;1716764;1732409;17998941;1833064;1833065;18692472;18775330;1898771;19279408;19920141;20478380;2065657;21102635;21372320;21779497;21779505;21993244;22153509;22528658;22569528;22589270;22750304;23103841;23303910;23443682;23575685;24897931;24937142;25219551;2555171;25781681;26085527;2681215;28778966;31135801;34638583;35051231;37236993;37905709;38191068;38614096;6148751;7513165;7651724;7809086;7935463;7972015;8007942;8052307;8084588;8294403;8394845;8483502;8493579;8647804;8665852;8710374;8939933;8947042;9030599;9099679;9108392;9111318;9162089;9378992;9422786;9516124;9604935;9685210;9766809;9885561;9927426", "class_list": "", "function": "Cell surface receptor that plays an important role in the survival, differentiation, and chemotaxis of eosinophils (PubMed:9378992). Acts by forming a heterodimeric receptor with CSF2RB subunit and subsequently binding to interleukin-5 (PubMed:1495999, PubMed:22528658). In unstimulated conditions, interacts constitutively with JAK2. Heterodimeric receptor activation leads to JAK2 stimulation and subsequent activation of the JAK-STAT pathway (PubMed:9516124)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Epithelial IL5RA promotes epithelial-mesenchymal transition in pulmonary fibrosis via Jak2/STAT3 cascade., [RefSeq, PubMed]; IL5RA as an immunogenic cell death-related predictor in progression and therapeutic response of multiple myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; Structure of the interleukin-5 receptor complex exemplifies the organizing principle of common beta cytokine signaling., [RefSeq, PubMed]; The Study of the Influence of IL5RA Variants on Chronic Obstructive Pulmonary Disease., [RefSeq, PubMed]; The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]., [RefSeq]; Transcriptional Regulation of the Human IL5RA Gene through Alternative Promoter Usage during Eosinophil Development. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3IU77;B4E2G0;Q14633;Q15469;Q6ISX9", "ec_number_list": [], "go_molecular_function": "GO:0004914 interleukin-5 receptor activity;GO:0019955 cytokine binding;GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043235 receptor complex;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0038043 interleukin-5-mediated signaling pathway;GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0019221 cytokine-mediated signaling pathway;GO:0007259 cell surface receptor signaling pathway via JAK-STAT", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q01344-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41236-1", "uniprot_id": [ { "id": "IPP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P41236", "type": "external" } ], "mass": 23015.0, "length": 205, "protein_name": "Protein phosphatase inhibitor 2", "gene_name": "PPP1R2", "organism": "Human", "refseq_name": "protein phosphatase inhibitor 2 isoform 4", "refseq_ac": [ { "id": "NP_001303254", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303254", "type": "external" } ], "gene_names_uniprotkb": "PPP1R2; IPP2", "gene_names_refseq": "IPP-2; IPP2; PPP1R2A; PPP1R2", "protein_names_uniprotkb": "Protein phosphatase inhibitor 2; IPP-2", "protein_names_refseq": "phosphoprotein phosphatase; protein phosphatase inhibitor 2 isoform 4; protein phosphatase inhibitor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5504)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;11320080;12665801;12761178;17081983;17287340;18088087;18212344;18220336;18250156;18491316;18510355;18669648;18767875;19415658;19651622;19690332;20068231;20166139;22645359;23506001;24195737;24714562;24715725;25810538;26992070;27846572;27862975;28834231;28904123;29485866;29493099;29557506;30429286;30833945;31154438;31373491;31844290;31848261;32157095;32357974;32488085;32502341;32983136;33141586;33238888;33717175;33912179;34171305;35051231;35318648;35513511;35561310;35580925;7949733;8119416;8288648;9126490;9405437", "class_list": "", "function": "Inhibitor of protein-phosphatase 1., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Protein phosphatase-1 (PP1) is one of the main eukaryotic serine/threonine phosphatases. The protein encoded by this gene binds to the catalytic subunit of PP1, strongly inhibiting its activity. Ten related pseudogenes have been found throughout the human genome. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]., [RefSeq]; The PP1 regulator PPP1R2 coordinately regulates AURKA and PP1 to control centrosome phosphorylation and maintain central spindle architecture. 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": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 26, "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": 12, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004865 protein serine/threonine phosphatase inhibitor activity;GO:0004864 protein phosphatase inhibitor activity;GO:0140678 molecular function inhibitor activity", "go_cellular_component": "", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0035556 intracellular signal transduction;GO:0005977 glycogen metabolic process;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P41236-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B2RXH2-1", "uniprot_id": [ { "id": "KDM4E_HUMAN", "url": "https://www.uniprot.org/uniprot/B2RXH2", "type": "external" } ], "mass": 56804.0, "length": 506, "protein_name": "Lysine-specific demethylase 4E", "gene_name": "KDM4E", "organism": "Human", "refseq_name": "lysine-specific demethylase 4E", "refseq_ac": [ { "id": "NP_001155102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155102", "type": "external" } ], "gene_names_uniprotkb": "KDM4E; KDM4DL; KDM5E", "gene_names_refseq": "JMJD2E; KDM4DL; KDM4E; KDM5E", "protein_names_uniprotkb": "Lysine-specific demethylase 4E; 1.14.11.-; 1.14.11.66; KDM4D-like protein; Lysine-specific demethylase 4D-like; [histone H3]-trimethyl-L-lysine(9) demethylase 4E", "protein_names_refseq": "KDM4D-like protein; [histone H3]-trimethyl-L-lysine(9) demethylase 4E; lysine (K)-specific demethylase 4E; lysine-specific demethylase 4E", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:390245); (R-HSA-9819196)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "21914792;22209328;23092293;23451023;23934149;24278031;26360614;26951377;27062923;28459456;28459457;31630170;32357974;34267371;35051231;35402882;36074823;37217939", "class_list": "", "function": "Histone demethylase that demethylates trimethylated 'Lys-9' of histone H3 into monomethylated form, thereby playing a central role in histone code (PubMed:21914792, PubMed:23451023). Also demethylates trimethylated 'Lys-56' of histone H3 (H3K9me3) to generate the monomethylated state (H3K56me1) (PubMed:23451023)., [UniProtKB, PubMed, PubMed]; Results indicate that the histone demethylase activity is regulated by oxygen availability., [RefSeq, PubMed]; The protein encoded by this intronless gene is a member of a large family of histone lysine demethylases, which use oxygen and 2-oxoglutarate to demethylate di- and trimethylated lys9 of histone H3. Derepression of genes by demethylases is sometimes involved in viral infection or carcinogenesis, so inhibitors of these enzymes are desired. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "1.14.11.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.66", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "1.14.99.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.66", "type": "external" }, { "id": "1.14.11.69", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.69", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0032454 histone H3K9 demethylase activity;GO:0140684 histone H3K9me2/H3K9me3 demethylase activity;GO:0140760 histone H3K56me2/H3K56me3 demethylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "B2RXH2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75940-1", "uniprot_id": [ { "id": "SPF30_HUMAN", "url": "https://www.uniprot.org/uniprot/O75940", "type": "external" } ], "mass": 26711.0, "length": 238, "protein_name": "Survival of motor neuron-related-splicing factor 30", "gene_name": "SMNDC1", "organism": "Human", "refseq_name": "survival of motor neuron-related-splicing factor 30", "refseq_ac": [ { "id": "NP_005862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005862", "type": "external" } ], "gene_names_uniprotkb": "SMNDC1; SMNR; SPF30", "gene_names_refseq": "SMNDC1; SMNR; SPF30; TDRD16C", "protein_names_uniprotkb": "Survival of motor neuron-related-splicing factor 30; 30 kDa splicing factor SMNrp; SMN-related protein; Survival motor neuron domain-containing protein 1", "protein_names_refseq": "30 kDa splicing factor SMNrp; SMN-related protein; splicing factor 30, survival of motor neuron-related; survival motor neuron domain-containing protein 1; survival of motor neuron-related-splicing factor 30; tudor domain containing 16C", "tax_id": 9606, "disease": "", "pathway": " (hsa:10285); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 5, "publication_count": 208, "publication_id_list": "10199952;10669729;10882114;11014198;11060040;11101529;11233976;11237011;11331295;11331595;11747608;11991638;12176931;12411573;12414731;12477934;12682017;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15565158;15647753;16263726;16314458;16372014;16809785;16964243;17095540;17128255;17332742;17433364;17606899;17717186;18042460;18288197;18322460;18593880;18669648;19103666;19165350;19217410;19415658;19536130;19608861;19664994;19690332;20068231;20211137;20423332;20695905;20980672;21295486;21536652;2176635;21911577;22046413;22101937;22110043;22365833;22569126;22813749;22922743;22959432;22961380;23186163;23222130;23236153;23345524;23481700;23874216;24076191;24149845;24196718;24304693;24366607;24448447;24714562;24715725;24737827;24914973;25301780;25301781;25555158;25576301;2558966;26092250;26375851;26385511;26420826;26728094;26758079;26969736;26992070;27108190;27377154;27459055;27661449;27683217;27846572;27920218;28062851;28076346;28096519;28218747;28411811;28502770;28514659;28781166;28832583;28834231;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29437277;29508533;29557506;29632711;2963332;29786170;29789417;29902443;30139799;30257008;30315122;30315277;30429286;30524438;30599162;30705154;30728453;30765414;30833945;30975767;31154438;31217245;31222486;31409651;31530632;31844290;31848261;31937595;32157095;32179686;32329775;32357974;32387766;32488085;32494006;32502341;32816001;32897882;32938616;32983136;33141586;33177556;33243851;33298915;33446560;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34301950;34405274;34509645;34561969;34822310;35051231;35132862;35177536;35215846;35251023;35385551;35580925;36010968;36044849;36215666;36241641;3757028;38665916;39150991;40596516;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529;9817934", "class_list": "", "function": "An autoregulatory poison exon in Smndc1 is conserved across kingdoms and influences organism growth. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in spliceosome assembly., [UniProtKB, PubMed, PubMed, PubMed]; SMNDC1 links chromatin remodeling and splicing to regulate pancreatic hormone expression., [RefSeq, PubMed]; This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "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": "B2RA27;D3DRB1;Q5T3K6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0006397 mRNA processing;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 21.2, "record_id": "O75940-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y657-1", "uniprot_id": [ { "id": "SPIN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y657", "type": "external" } ], "mass": 29601.0, "length": 262, "protein_name": "Spindlin-1", "gene_name": "SPIN1", "organism": "Human", "refseq_name": "spindlin-1", "refseq_ac": [ { "id": "NP_006708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006708", "type": "external" } ], "gene_names_uniprotkb": "SPIN1; OCR; SPIN", "gene_names_refseq": "SPIN1; SPIN; TDRD24", "protein_names_uniprotkb": "Spindlin-1; Ovarian cancer-related protein; Spindlin1", "protein_names_refseq": "ovarian cancer-related protein; spindlin-1; spindlin1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10927)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11230166;16098913;16472086;17081983;17082182;17287340;18669648;18991276;19651622;20068231;21960006;22258766;23077255;23186163;24589551;25880248;26992070;28832583;28834231;29061846;29242379;29393594;29493099;29557506;29786170;30429286;30779550;31154438;31844290;31848261;32157095;32161166;32897882;33091337;33574238;33592498;33912179;33936100;33968037;33981976;34019948;34561969;34753384;35051231;35164245;35318648;35561310;35580925;36241641;36284347;36736887;37217939;37938771;37977297;39090319", "class_list": "", "function": "Chromatin reader that specifically recognizes and binds histone H3 both trimethylated at 'Lys-4' and 'Lys-9' (H3K4me3K9me3) and is involved in piRNA-mediated retrotransposon silencing during spermatogenesis (PubMed:33574238). Plays a key role in the initiation of the PIWIL4-piRNA pathway, a pathway that directs transposon DNA methylation and silencing in the male embryonic germ cells, by promoting recruitment of DNA methylation machinery to transposons: binds young, but not old, LINE1 transposons, which are specifically marked with H3K4me3K9me3, and promotes the recruitment of PIWIL4 and SPOCD1 to transposons, leading to piRNA-directed DNA methylation (By similarity). Also recognizes and binds histone H3 both trimethylated at 'Lys-4' and asymmetrically dimethylated at 'Arg-8' (H3K4me3 and H3R8me2a) and acts as an activator of Wnt signaling pathway downstream of PRMT2 (PubMed:22258766, PubMed:29061846). In case of cancer, promotes cell cancer proliferation via activation of the Wnt signaling pathway (PubMed:24589551). Overexpression induces metaphase arrest and chromosomal instability. Localizes to active rDNA loci and promotes the expression of rRNA genes (PubMed:21960006). May play a role in cell-cycle regulation during the transition from gamete to embryo (By similarity). Involved in oocyte meiotic resumption, a process that takes place before ovulation to resume meiosis of oocytes blocked in prophase I: may act by regulating maternal transcripts to control meiotic resumption (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Epigenetic Control of Cancer Cell Proliferation and Cell Cycle Progression by HNRNPK via Promoting Exon 4 Inclusion of Histone Code Reader SPIN1., [RefSeq, PubMed]; Molecular Basis for SPINDOC-Spindlin1 Engagement and Its Role in Transcriptional Attenuation., [RefSeq, PubMed]; Recognition of Dimethylarginine Analogues by Tandem Tudor Domain Protein Spindlin1. Publication Status: Online-Only, [RefSeq, PubMed]; Recombinant human spindlin1 has been overexpressed in Escherichia coli BL21, purified and crystallized using the hanging-drop vapour-diffusion method, [RefSeq, PubMed]; SPIN1 facilitates chemoresistance and HR repair by promoting Tip60 binding to H3K9me3., [RefSeq, PubMed]; Spindlin1 gene may contribute to tumorigenesis, [RefSeq, PubMed]; The microRNA-381(miR-381)/Spindlin1(SPIN1) axis contributes to cell proliferation and invasion of colorectal cancer cells by regulating the Wnt/beta-catenin 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": 17, "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": "A8K0X6;B3KRQ4;Q7KZJ8;Q9GZT2;Q9H0N7", "ec_number_list": [], "go_molecular_function": "GO:0140566 histone reader activity;GO:0140002 histone H3K4me3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0016055 Wnt signaling pathway;GO:0009303 rRNA transcription;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9Y657-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6I5-1", "uniprot_id": [ { "id": "SPT12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6I5", "type": "external" } ], "mass": 20418.0, "length": 190, "protein_name": "Spermatogenesis-associated protein 12", "gene_name": "SPATA12", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 12", "refseq_ac": [ { "id": "NP_859078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_859078", "type": "external" } ], "gene_names_uniprotkb": "SPATA12; SRG5", "gene_names_refseq": "SPATA12; SRG5", "protein_names_uniprotkb": "Spermatogenesis-associated protein 12; Spermatogenesis-related protein 5", "protein_names_refseq": "spermatogenesis-associated protein 12; spermatogenesis-related protein 5; testicular tissue protein Li 184", "tax_id": 9606, "disease": "", "pathway": " (hsa:353324)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "15490870;15603706;17251597;22981541;24205157;29557506", "class_list": "", "function": "AP-1 is founded to be a potential transcriptional activator of SPATA12. The promoter activity of SPATA12 was drastically declined after AP-1 binding site mutation or deletion., [RefSeq, PubMed]; Didital differential display can be confirmed by SPATA12 as a novel computational biology-based approach for identification of the testis-specific expression of genes., [RefSeq, PubMed]; Putative function of SPATA12 is to maintain the cell in a differentiated state and/or to suppress cell proliferation in the human testis., [RefSeq, PubMed]; SPATA12 could be induced under UV-C stress. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is expressed primarily in testis and may play a role in testicular development and spermatogenesis. The encoded protein may be upregulated in response to ultraviolet-C radiation. [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": 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": "A0AVA8;B2RMW1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q7Z6I5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14678-1", "uniprot_id": [ { "id": "RSMB_HUMAN", "url": "https://www.uniprot.org/uniprot/P14678", "type": "external" } ], "mass": 24610.0, "length": 240, "protein_name": "Small nuclear ribonucleoprotein-associated proteins B and B'", "gene_name": "SNRPB", "organism": "Human", "refseq_name": "small nuclear ribonucleoprotein-associated proteins B and B' isoform B", "refseq_ac": [ { "id": "NP_003082", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003082", "type": "external" } ], "gene_names_uniprotkb": "SNRPB; COD; SNRPB1", "gene_names_refseq": "CCMS; COD; SNRPB1; SNRPB; Sm-B/B'; SmB/B'; SmB/SmB'; snRNP-B", "protein_names_uniprotkb": "Small nuclear ribonucleoprotein-associated proteins B and B'; Sm protein B/B'; Sm-B/B'; SmB/B'; snRNP-B", "protein_names_refseq": "B polypeptide of Sm protein; Sm protein B/B'; sm-B/Sm-B'; small nuclear ribonucleoprotein polypeptide B; small nuclear ribonucleoprotein polypeptides B and B'; small nuclear ribonucleoprotein-associated proteins B and B' isoform B; small nuclear ribonucleoprotein-associated proteins B and B'", "tax_id": 9606, "disease": "cerebrocostomandibular syndrome (Disease Ontology:DOID:0111248); mixed connective tissue disease (Disease Ontology:DOID:3492); lung adenocarcinoma (Disease Ontology:DOID:3910); tauopathy (Disease Ontology:DOID:680)", "pathway": " (hsa:6628); (R-HSA-111367); (R-HSA-191859); (R-HSA-72163); (R-HSA-72165); (R-HSA-73856); (R-HSA-77588); (R-HSA-9754678); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 11, "publication_count": 278, "publication_id_list": "10025403;10199952;10207048;10500148;10531003;10556282;10556313;10601333;10669729;10725331;10851237;10882114;11014198;11060040;11101529;11233976;11237011;11333016;11333026;11418695;11574479;11607023;11714716;11747608;11748230;11862315;11991638;12065586;12095920;12176931;12411573;12414731;12441251;12477934;12682017;12727642;12776181;12975319;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15146077;15565158;15647753;15955813;16087681;16263726;16314458;16314521;16372014;16809785;1694885;17095540;17128255;17332742;17433364;17606899;17717186;17940139;18042460;1825643;18288197;18322460;18593880;18849143;18984161;19052544;19103666;19165350;19217410;19248110;19325628;19536130;19838190;20068231;20211137;20423332;20695905;20980672;21295486;21516107;21536652;2176635;21911577;22046413;22110043;22365833;22424782;22569126;22813749;22922743;22959432;22961380;23222130;23236153;23345524;23481700;23874216;24076191;24129315;24149845;24196718;24304693;24448447;24715725;24737827;24914973;25047197;2522186;2524422;2524838;25301780;25301781;2531083;25418920;25504470;25555158;25576301;2558966;25645385;25892735;26092250;26154972;26375851;26385511;26420826;26811146;26912367;26929215;26969736;26992070;27108190;27377154;27452731;27459055;27510544;27600516;27661449;27683217;27862975;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28514659;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29437277;29493099;29508533;29532871;29557506;29632046;29632711;2963332;29786170;29789417;29902443;30139799;30192525;30257008;30315122;30315277;30524438;30573663;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31222486;31409651;31530632;31844290;31848261;32157095;32161166;32179686;32329775;32350084;32357974;32387766;32488085;32494006;32680882;32816001;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33177556;33188728;33243851;33268501;33298915;33446560;33479166;33592498;33613527;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34301950;34315815;34357683;34373319;34405274;34509645;34624207;34822310;35051231;35154160;35177536;35215846;35251023;35385551;35561310;35580925;36010968;36215666;36241641;36610391;36797247;37340703;3757028;37938771;38321013;38665916;40596516;40930100;7554555;8196654;8566756;8608946;8835860;9016565;9049306;9242493;9512519;9524131;9539711;9552009;9659921;9671485;9701291;9731529;9802926;9845364", "class_list": "", "function": "Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:25555158, PubMed:26912367, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:32494006). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28076346, PubMed:28502770, PubMed:28781166). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077). As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing (PubMed:12975319)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q15490;Q6IB35;Q9UIS5", "ec_number_list": [], "go_molecular_function": "GO:1990446 U1 snRNP binding;GO:0003723 RNA binding;GO:0070990 snRNP binding;GO:0070034 telomerase RNA binding;GO:0071208 histone pre-mRNA DCP binding", "go_cellular_component": "GO:0005685 U1 snRNP;GO:0071204 histone pre-mRNA 3'end processing complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0036261 7-methylguanosine cap hypermethylation;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0008380 RNA splicing;GO:0048025 negative regulation of mRNA splicing, via spliceosome;GO:0006479 protein methylation", "synthesized_glycan_count": 0, "hit_score": 28.1, "record_id": "P14678-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQM7-1", "uniprot_id": [ { "id": "KCC2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQM7", "type": "external" } ], "mass": 54088.0, "length": 478, "protein_name": "Calcium/calmodulin-dependent protein kinase type II subunit alpha", "gene_name": "CAMK2A", "organism": "Human", "refseq_name": "calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 2", "refseq_ac": [ { "id": "NP_741960", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_741960", "type": "external" } ], "gene_names_uniprotkb": "CAMK2A; CAMKA; KIAA0968", "gene_names_refseq": "CAMK2A; CAMKA; CaMKIINalpha; CaMKIIalpha; MRD53; MRT63", "protein_names_uniprotkb": "Calcium/calmodulin-dependent protein kinase type II subunit alpha; 2.7.11.17; CaM kinase II subunit alpha; CaMK-II subunit alpha", "protein_names_refseq": "CaM kinase II alpha subunit; CaM-kinase II alpha chain; CaMK-II alpha subunit; caM kinase II subunit alpha; caMK-II subunit alpha; calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha; calcium/calmodulin-dependent protein kinase II alpha-B subunit; calcium/calmodulin-dependent protein kinase type II alpha chain; calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 2; calcium/calmodulin-dependent protein kinase type II subunit alpha", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal dominant intellectual developmental disorder 53 (Disease Ontology:DOID:0080228); autosomal recessive intellectual developmental disorder 63 (Disease Ontology:DOID:0081224); heart conduction disease (Disease Ontology:DOID:10273); Alzheimer's disease (Disease Ontology:DOID:10652); transient cerebral ischemia (Disease Ontology:DOID:224); high grade glioma (Disease Ontology:DOID:3070); bipolar disorder (Disease Ontology:DOID:3312); middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:815); (R-HSA-111932); (R-HSA-3371571); (R-HSA-399719); (R-HSA-4086398); (R-HSA-438066); (R-HSA-442982); (R-HSA-5576892); (R-HSA-5578775); (R-HSA-5673000); (R-HSA-5673001); (R-HSA-6802946); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-877300); (R-HSA-9022692); (R-HSA-936837); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9918481)", "pathway_count": 23, "publication_count": 401, "publication_id_list": "10067896;10205168;10220561;10373510;10380924;10391246;10391247;10395542;10401004;10484781;10488343;10508167;10588714;10615129;10712905;10767338;10777564;10858654;10869344;10891492;10913253;10986460;11015615;11027663;11030334;11032810;11062458;11090077;11136978;11237011;11290418;11313946;11325826;11447121;11494123;11546808;11563835;11702783;11741534;11747608;11756411;11904675;11972023;12015605;12032311;12040185;12068308;12086864;12094235;12119109;12121613;12244094;12408851;12438563;12446674;12471263;12482967;12551923;12556497;12729560;12807427;12815021;12832055;12915721;12932319;12932339;12953268;12975316;1309946;1324926;1396683;14500339;14506247;14519844;14530258;14586410;14622581;14704854;14707138;14722083;14722222;14762106;14977528;15000524;15035987;15084397;1508672;15143187;15174025;15258589;15260953;15270074;15312654;15322089;15322115;15356145;15388922;1545823;15467451;15494017;15530433;15545263;15546878;15591024;15598648;15611108;15630448;15710605;15711535;15754088;15760475;15800181;15831496;15899852;15919184;15925480;16041367;16093354;16182249;16237089;16294014;16364920;16467876;16508002;16537381;1656976;16627759;16630891;16684964;16700898;16702958;16754674;16880514;16920709;1693919;17018604;17046689;17097642;17125875;1716764;17216044;17224452;17357072;17426020;17486119;17603482;17603483;17684012;17855605;17994015;17997397;17998941;18184654;18294816;18311135;18362138;18456304;18488142;1849884;18510355;18562239;18591661;18662992;18723824;18775330;18974108;1898771;18995841;19049963;19158341;19177143;19217379;19225110;19278978;19279408;19331822;19345671;19406745;19467855;19536106;19541618;19684605;19727074;19751721;19820693;19851316;19878721;19920141;19933846;20049711;20052757;20068231;20130243;20130576;20141835;20179705;20304997;20363976;20388710;20478380;20526349;20674547;20820846;21102635;21108950;21118996;21127204;21372320;21424530;21441104;21441910;21514245;21566136;2160952;21779496;21779497;21779505;21784453;21817159;21903638;21911577;21993244;22043453;22054663;22186024;22210847;2226863;22292133;22427649;22510884;22514276;22569528;22589270;22592532;22707725;22745804;22750304;22768106;22826437;22941947;22972900;23061660;23103841;23151663;23196729;23256519;23303910;23352452;23360980;23362265;23416699;23443682;23453624;23549614;23575685;23583981;23610579;23632248;23680146;23770565;23770587;23804213;23805378;23863182;23875798;23904219;23906342;23993095;24121058;24121489;24135138;24202393;24211266;2430951;24345920;24347342;24392018;24417533;24651010;2477373;24897931;24937142;24957944;25204415;25219551;25435214;25505266;25533962;2559024;25781681;25907612;25965804;25994790;26085527;26092250;26214590;26239616;26343583;26590425;27067231;27108190;27264673;27999210;28082416;28130356;28289718;2838329;2841328;28449373;28645727;28657654;28666118;28778966;28904123;28984291;29100089;29461827;2953725;29557506;29560374;29632711;29784083;29902443;30590034;30599162;31135801;31844290;32157095;33177556;33239784;35215846;35568036;37938771;38015546;38936066;39256359;40281343;6148751;6328127;6832622;7510216;7514165;7530745;7542586;7615558;7617032;7626145;7657660;7673114;7690989;7702581;7744815;7796299;7809086;7929371;7935463;7972015;8045293;8052307;8107964;8156998;8176225;8298639;8394845;8455624;8483949;8490646;8490659;8493579;8521512;8521513;8521514;8530158;8550631;8631301;8637718;8665852;8702940;8710374;8798450;8876196;8918259;8939933;8946910;9020159;9073455;9111318;9143706;9147644;9234708;9307043;9346285;9389482;9452388;9604935;9620804;9648857;9689060;9823899;9858547;9927426", "class_list": "", "function": "Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in various processes, such as synaptic plasticity, neurotransmitter release and long-term potentiation (PubMed:14722083). Member of the NMDAR signaling complex in excitatory synapses, it regulates NMDAR-dependent potentiation of the AMPAR and therefore excitatory synaptic transmission (By similarity). Regulates dendritic spine development (PubMed:28130356). Also regulates the migration of developing neurons (PubMed:29100089). Phosphorylates the transcription factor FOXO3 to activate its transcriptional activity (PubMed:23805378). Phosphorylates the transcription factor ETS1 in response to calcium signaling, thereby decreasing ETS1 affinity for DNA (By similarity). In response to interferon-gamma (IFN-gamma) stimulation, catalyzes phosphorylation of STAT1, stimulating the JAK-STAT signaling pathway (PubMed:11972023). In response to interferon-beta (IFN-beta) stimulation, stimulates the JAK-STAT signaling pathway (PubMed:35568036). In response to interferon-gamma (IFN-gamma) stimulation, catalyzes phosphorylation of PSAT1, inhibiting ferroptosis by promoting GPX4 hydroxylation and stability (PubMed:40281343). Acts as a negative regulator of 2-arachidonoylglycerol (2-AG)-mediated synaptic signaling via modulation of DAGLA activity (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Camk2a suppresses denervated muscle atrophy by maintaining the Ca2+ homeostasis in muscle cells. Publication Status: Online-Only, [RefSeq, PubMed]; CircADAMTS6 via stabilizing CAMK2A is involved in smoking-induced emphysema through driving M2 macrophage polarization., [RefSeq, PubMed]; The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 11, "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": "Q9UL21;Q9Y2H4;Q9Y352", "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": "7.2.2.10", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.10", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.10.1", "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": "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": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "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": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "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": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.19", "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": "2.7.11.38", "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:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0002931 response to ischemia;GO:0006816 calcium ion transport;GO:2000124 regulation of endocannabinoid signaling pathway;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0046928 regulation of neurotransmitter secretion", "synthesized_glycan_count": 0, "hit_score": 40.4, "record_id": "Q9UQM7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17540-1", "uniprot_id": [ { "id": "KCRS_HUMAN", "url": "https://www.uniprot.org/uniprot/P17540", "type": "external" } ], "mass": 47504.0, "length": 419, "protein_name": "Creatine kinase S-type, mitochondrial", "gene_name": "CKMT2", "organism": "Human", "refseq_name": "creatine kinase S-type, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001093205", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093205", "type": "external" } ], "gene_names_uniprotkb": "CKMT2", "gene_names_refseq": "CKMT2; SMTCK", "protein_names_uniprotkb": "Creatine kinase S-type, mitochondrial; 2.7.3.2; Basic-type mitochondrial creatine kinase; Mib-CK; S-MtCK; Sarcomeric mitochondrial creatine kinase", "protein_names_refseq": "S-MtCK; basic-type mitochondrial creatine kinase; creatine kinase S-type, mitochondrial precursor; creatine kinase S-type, mitochondrial; creatine kinase, mitochondrial 2 (sarcomeric); mib-CK; sarcomeric mitochondrial creatine kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:1160); (R-HSA-71288)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "11237011;11555793;12889669;15044463;16981706;20068231;2324105;25576301;27600516;28834231;2914937;29557506;30444036;32157095;34095014;35251023;37938771;38172162;39383244;7945388;8651275;9148748;9218780;9722522", "class_list": "", "function": "Decreased mitochondrial creatine kinase 2 impairs skeletal muscle mitochondrial function independently of insulin in type 2 diabetes., [RefSeq, PubMed]; Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Prognostic value of mitochondrial CKMT2 in Pan-cancer and its tumor immune correlation analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ICS8;Q8N1E1", "ec_number_list": [ { "id": "2.7.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.3.2", "type": "external" } ], "go_molecular_function": "GO:0004111 creatine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0046314 phosphocreatine biosynthetic process;GO:0006936 muscle contraction", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P17540-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QV1-1", "uniprot_id": [ { "id": "HHIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QV1", "type": "external" } ], "mass": 78851.0, "length": 700, "protein_name": "Hedgehog-interacting protein", "gene_name": "HHIP", "organism": "Human", "refseq_name": "hedgehog-interacting protein precursor", "refseq_ac": [ { "id": "NP_071920", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071920", "type": "external" } ], "gene_names_uniprotkb": "HHIP; HIP; PRO19644", "gene_names_refseq": "HHIP; HIP", "protein_names_uniprotkb": "Hedgehog-interacting protein; HHIP; HIP", "protein_names_refseq": "hedgehog-interacting protein precursor", "tax_id": 9606, "disease": "primary biliary cholangitis (Disease Ontology:DOID:12236); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:64399); (R-HSA-5632681)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10.1101/2023.09.13.557529;10050855;11435703;11472839;11841368;12569124;12975309;15019948;15294024;16647304;17086203;17504940;17504941;18391950;18559595;18794898;19561609;19561611;20519495;20844013;21664576;21664577;21802063;21842183;22326621;23719536;23900540;26375851;29242379;29789417;32157095;32488085;32897882;33592498;35051231;35276608;36010968;36215666;36374812;36482325;38417378;39468530;8898207;8906787;8906794", "class_list": "", "function": "Differential promoter usages of PTCH1 and down regulation of HHIP are associated with HNSCC progression., [RefSeq, PubMed]; Exosomal microRNAs in the DLK1-DIO3 imprinted region derived from cancer-associated fibroblasts promote progression of hepatocellular carcinoma by targeting hedgehog interacting protein. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a distal enhancer regulating hedgehog interacting protein gene in human lung epithelial cells., [RefSeq, PubMed]; Impact of HHIP gene polymorphisms on phenotypes, serum IL-17 and IL-18 in COPD patients of the Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family., [UniProtKB, PubMed, PubMed]; Natural Antisense Long Noncoding RNA HHIP-AS1 Suppresses Non-Small-Cell Lung Cancer Progression by Increasing HHIP Stability via Interaction with CELF2., [RefSeq, PubMed]; These results suggest that reduced expression of HIP, a naturally occurring Hh pathway antagonist, in tumor neo-vasculature may contribute to increased Hh signaling within the tumor and possibly promote angiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 5, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6PK09;Q8NCI7;Q9BXK3;Q9H1J4;Q9H7E7", "ec_number_list": [], "go_molecular_function": "GO:0097108 hedgehog family protein binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0060170 ciliary membrane", "go_biological_process": "GO:0048705 skeletal system morphogenesis;GO:0009968 negative regulation of signal transduction;GO:0045879 negative regulation of smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q96QV1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q93099-1", "uniprot_id": [ { "id": "HGD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q93099", "type": "external" } ], "mass": 49964.0, "length": 445, "protein_name": "Homogentisate 1,2-dioxygenase", "gene_name": "HGD", "organism": "Human", "refseq_name": "homogentisate 1,2-dioxygenase", "refseq_ac": [ { "id": "NP_000178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000178", "type": "external" } ], "gene_names_uniprotkb": "HGD; HGO", "gene_names_refseq": "AKU; HGD; HGO", "protein_names_uniprotkb": "Homogentisate 1,2-dioxygenase; 1.13.11.5; Homogentisate oxygenase; Homogentisic acid oxidase; Homogentisicase", "protein_names_refseq": "homogentisate 1,2-dioxygenase; homogentisate oxidase; homogentisate oxygenase; homogentisic acid oxidase; homogentisicase", "tax_id": 9606, "disease": "alkaptonuria (Disease Ontology:DOID:9270)", "pathway": " (hsa:3081); (R-HSA-8963684)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "10205262;10340975;10482952;10594001;10876237;10942115;11237011;11327815;16640556;19608861;19664995;19862842;21153519;21437689;23353776;23430897;25681086;27862975;28514659;29242379;29557506;30379171;31844290;32350084;32983136;33592498;34047349;34171305;34185709;35051231;35251023;35580925;36284347;36880186;37658095;37794595;5487549;8364576;8782815;9154114;9244427;9529363;9630082", "class_list": "", "function": "Catalyzes the conversion of homogentisate to maleylacetoacetate., [UniProtKB, PubMed]; Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria. Publication Status: Online-Only, [RefSeq, PubMed]; Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria. Review article, [RefSeq, PubMed]; This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "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": "A8K417;B2R8Z0", "ec_number_list": [ { "id": "1.13.11.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.5", "type": "external" } ], "go_molecular_function": "GO:0004411 homogentisate 1,2-dioxygenase activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006559 L-phenylalanine catabolic process;GO:0006572 L-tyrosine catabolic process;GO:0006570 tyrosine metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q93099-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P298-1", "uniprot_id": [ { "id": "HIG1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P298", "type": "external" } ], "mass": 11058.0, "length": 99, "protein_name": "HIG1 domain family member 1B", "gene_name": "HIGD1B", "organism": "Human", "refseq_name": "HIG1 domain family member 1B", "refseq_ac": [ { "id": "NP_001258809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258809", "type": "external" } ], "gene_names_uniprotkb": "HIGD1B", "gene_names_refseq": "CLST11240-15; CLST11240; HIGD1B", "protein_names_uniprotkb": "HIG1 domain family member 1B; Protein CLST 11240", "protein_names_refseq": "HIG1 domain family member 1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:51751)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;22609626;24715725;31154438;34080026;38863387;39108265", "class_list": "", "function": "Downregulation of HIGD1B induces mitochondria-mediated apoptosis in gastric cancer cells by inactivating Akt and ERK pathways., [RefSeq, PubMed]; HIGD1B inhibits hypoxiainduced mitochondrial fragmentation by regulating OPA1 cleavage in cardiomyocytes., [RefSeq, PubMed]; HIGD1B, as a novel prognostic biomarker, is involved in regulating the tumor microenvironment and immune cell infiltration; its overexpression leads to poor prognosis in gastric cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the hypoxia inducible gene 1 (HIG1) domain family. The encoded protein is localized to the cell membrane and has been linked to tumorigenesis and the progression of pituitary adenomas. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DX57;Q9P297", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "GO:0097250 mitochondrial respirasome assembly", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9P298-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86V85-1", "uniprot_id": [ { "id": "GP180_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86V85", "type": "external" } ], "mass": 49395.0, "length": 440, "protein_name": "Integral membrane protein GPR180", "gene_name": "GPR180", "organism": "Human", "refseq_name": "integral membrane protein GPR180 precursor", "refseq_ac": [ { "id": "NP_851320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_851320", "type": "external" } ], "gene_names_uniprotkb": "GPR180; ITR", "gene_names_refseq": "GPR180; ITR", "protein_names_uniprotkb": "Integral membrane protein GPR180; Intimal thickness-related receptor", "protein_names_refseq": "integral membrane protein GPR180 precursor; integral membrane protein GPR180; intimal thickness-related receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:160897)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;12730718;16959974;25772937;25813380;28510447;28832583;28904123;29242379;29493099;29786170;30779550;31844290;32119511;32157095;32200002;32938616;33214551;33912179;34019948;34357683;34880217;35051231;36241641;36726016;38665916", "class_list": "", "function": "22 SNPs were isolated from the ITR locus by systematically screening genomic DNA from 48 healthy Japanese individuals, [RefSeq, PubMed]; A null GPR180 mutation segregates over two generations with iridocorneal angle dysgenesis, consistent with the view that deletions of this gene are the cause of MCOR., [RefSeq, PubMed]; GPR180 is a component of TGFbeta signalling that promotes thermogenic adipocyte function and mediates the metabolic effects of the adipocyte-secreted factor CTHRC1. Publication Status: Online-Only, [RefSeq, PubMed]; Lack of GPR180 ameliorates hepatic lipid depot via downregulation of mTORC1 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism., [RefSeq, PubMed]; This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "A8K1D5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0019236 response to pheromone", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q86V85-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAA5-1", "uniprot_id": [ { "id": "GRPE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAA5", "type": "external" } ], "mass": 25431.0, "length": 225, "protein_name": "GrpE protein homolog 2, mitochondrial", "gene_name": "GRPEL2", "organism": "Human", "refseq_name": "grpE protein homolog 2, mitochondrial precursor", "refseq_ac": [ { "id": "NP_689620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689620", "type": "external" } ], "gene_names_uniprotkb": "GRPEL2", "gene_names_refseq": "GRPEL2; Mt-GrpE#2", "protein_names_uniprotkb": "GrpE protein homolog 2, mitochondrial; Mt-GrpE#2", "protein_names_refseq": "grpE protein homolog 2, mitochondrial precursor; grpE protein homolog 2, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:134266); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "11237011;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19608861;19767391;19962426;20593814;20877624;21750375;23041349;23301498;23597483;23811401;25315652;26697887;28848044;30192525;31844290;33141586;33936100;34884508;36241641;39445986", "class_list": "", "function": "Data suggest that two putative NEF (nucleotide exchange factors) orthologs, GRPEL1 and GRPEL2, modulate function of mitochondrial HSP70 (mtHSP70); both GRPEL1 and GRPEL2 associate with mtHSP70 as hetero-oligomeric subcomplex and regulate mtHSP70 transport. (GRPEL = mitochondrial GrpE-like protein; HSP70 = heat-shock protein 70), [RefSeq, PubMed]; Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Seems to control the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins. Stimulates ATPase activity of mt-HSP70. May also serve to modulate the interconversion of oligomeric (inactive) and monomeric (active) forms of mt-HSP70 (By similarity)., [UniProtKB]; GRPEL2 Knockdown Exerts Redox Regulation in Glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Preferential binding of ADP-bound mitochondrial HSP70 to the nucleotide exchange factor GRPEL1 over GRPEL2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "B4DFA6;Q49AJ6", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0000774 adenyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0001405 PAM complex, Tim23 associated import motor", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006457 protein folding;GO:0030150 protein import into mitochondrial matrix", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8TAA5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TB92-1", "uniprot_id": [ { "id": "HMGC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TB92", "type": "external" } ], "mass": 39514.0, "length": 370, "protein_name": "3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic", "gene_name": "HMGCLL1", "organism": "Human", "refseq_name": "3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic isoform b", "refseq_ac": [ { "id": "NP_001035865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035865", "type": "external" } ], "gene_names_uniprotkb": "HMGCLL1", "gene_names_refseq": "ERCHL; HMGCLL1; bA418P12.1; er-cHL", "protein_names_uniprotkb": "3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic; 3-hydroxy-3-methylglutaryl-CoA lyase-like protein 1; 4.1.3.4; Endoplasmic reticulum 3-hydroxy-3-methylglutaryl-CoA lyase; HMGCL-like 1; er-cHL", "protein_names_refseq": "3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic; 3-hydroxy-3-methylglutaryl-CoA lyase-like protein 1; 3-hydroxymethyl-3-methylglutaryl-CoA lyase L1; 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1; 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic isoform b; 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic; 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like protein 1; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1; HMGCL-like 1; endoplasmic reticulum 3-hydroxy-3-methylglutaryl-CoA lyase; endoplasmic reticulum 3-hydroxymethyl-3-methylglutaryl-CoA lyase; endoplasmic reticulum and cytosol HMG-CoA lyase; probable 3-hydroxymethyl-3-methylglutaryl-CoA lyase 2", "tax_id": 9606, "disease": "amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:54511); (R-HSA-77111)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "11237011;11479731;12623130;16380372;1639787;17762044;20102333;22847177;22865860;23396451;30429286;34171305;35051231;36010968;36284347;3709573;7061490;8440722", "class_list": "", "function": "Analysis of HMGCLL1 as an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase and comparison with MHGCL, [RefSeq, PubMed]; Non-mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis, the products of which support energy production in nonhepatic animal tissues., [UniProtKB, PubMed, PubMed]; There are nine mature transcripts for the novel gene HMGCLL1, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 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": "B1AQ42;B3KNV0;B7Z1S7;F8W793;Q6ZSA9", "ec_number_list": [ { "id": "4.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.3.4", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004419 hydroxymethylglutaryl-CoA lyase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0046951 ketone body biosynthetic process;GO:0006552 L-leucine catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8TB92-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC17-1", "uniprot_id": [ { "id": "GRAPL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC17", "type": "external" } ], "mass": 13442.0, "length": 118, "protein_name": "GRB2-related adapter protein-like", "gene_name": "GRAPL", "organism": "Human", "refseq_name": "GRB2-related adapter protein-like isoform 1", "refseq_ac": [ { "id": "NP_001123250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123250", "type": "external" } ], "gene_names_uniprotkb": "GRAPL", "gene_names_refseq": "GRAPLDR; GRAPL", "protein_names_uniprotkb": "GRB2-related adapter protein-like", "protein_names_refseq": "GRAPL long non-coding downstream RNA; GRB2-related adapter protein LOC400581; GRB2-related adapter protein-like isoform 1; GRB2-related adapter protein-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:400581)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "29557506;32502341;34357683", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RXI8", "ec_number_list": [], "go_molecular_function": "GO:0030971 receptor tyrosine kinase binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0016477 cell migration;GO:0007167 enzyme-linked receptor protein signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8TC17-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDB4-1", "uniprot_id": [ { "id": "HUMMR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDB4", "type": "external" } ], "mass": 25390.0, "length": 240, "protein_name": "Protein MGARP", "gene_name": "MGARP", "organism": "Human", "refseq_name": "protein MGARP", "refseq_ac": [ { "id": "NP_116012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116012", "type": "external" } ], "gene_names_uniprotkb": "MGARP; C4orf49; CESP1; GS3582; HUMMR; OSAP", "gene_names_refseq": "C4orf49; CESP-1; HUMMR; MGARP; OSAP", "protein_names_uniprotkb": "Protein MGARP; CESP-1; Corneal endothelium-specific protein 1; Hypoxia up-regulated mitochondrial movement regulator protein; Mitochondria-localized glutamic acid-rich protein; Ovary-specific acidic protein", "protein_names_refseq": "corneal endothelium-specific protein 1; hypoxia up-regulated mitochondrial movement regulator protein; ovary-specific acidic protein; protein MGARP", "tax_id": 9606, "disease": "", "pathway": " (hsa:84709)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "12036975;12770732;16565373;19325000;19528298;21447634;23209644;30379171;31202457", "class_list": "", "function": "MGARP overexpression caused both mitochondrial remodeling and cristae shaping, leading to the collapse of the mitochondrial network. The mitochondrial morphologies in MGARP-overexpressing cells were diverse; the cells became round or short, and their cristae were deformed and became discontinuous or circular., [RefSeq, PubMed]; OSAP is prominently expressed in steroidogenic tissues; results suggest that OSAP is involved in steroidogenesis, potentially through its ability to maintain mitochondrial abundance and morphology, [RefSeq, PubMed]; Plays a role in the trafficking of mitochondria along microtubules. Regulates the kinesin-mediated axonal transport of mitochondria to nerve terminals along microtubules during hypoxia. Participates in the translocation of TRAK2/GRIF1 from the cytoplasm to the mitochondrion. Also plays a role in steroidogenesis through maintenance of mitochondrial abundance and morphology (By similarity). Plays an inhibitory role during neocortex development by regulating mitochondrial morphology, distribution and motility in neocortical neurons (By similarity)., [UniProtKB, UniProtKB]; Results identify a novel mitochondria protein, hypoxia up-regulated mitochondrial movement regulator (HUMMR), which is expressed in neurons and is markedly induced by hypoxia-inducible factor 1 alpha (HIF-1alpha)., [RefSeq, PubMed]; The present study identified a proximal core sequence in the MGARP promoter that is composed of two enriched Sp1 binding motifs and established Sp1 as one major MGARP transactivator., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "Q9BZC3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:1904115 axon cytoplasm", "go_biological_process": "GO:0008090 retrograde axonal transport;GO:0021987 cerebral cortex development;GO:0071456 cellular response to hypoxia;GO:0006626 protein targeting to mitochondrion;GO:0008089 anterograde axonal transport", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8TDB4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDF6-1", "uniprot_id": [ { "id": "GRP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDF6", "type": "external" } ], "mass": 74882.0, "length": 673, "protein_name": "RAS guanyl-releasing protein 4", "gene_name": "RASGRP4", "organism": "Human", "refseq_name": "RAS guanyl-releasing protein 4 isoform b", "refseq_ac": [ { "id": "NP_001139674", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139674", "type": "external" } ], "gene_names_uniprotkb": "RASGRP4", "gene_names_refseq": "RASGRP4", "protein_names_uniprotkb": "RAS guanyl-releasing protein 4", "protein_names_refseq": "RAS guanyl-releasing protein 4 isoform b; guanyl nucleotide releasing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:115727); (R-HSA-2871837); (R-HSA-5673001)", "pathway_count": 3, "publication_count": 113, "publication_id_list": "10508167;10702308;10838074;10869344;10882101;11027663;11090077;11090634;11136978;11313946;11325957;11460167;11546808;11702783;11772397;11880369;11956218;12032311;12094235;12121613;12473184;12493770;14506247;14514672;14707138;15125833;15327770;15356145;1545823;15546878;16186825;16252004;16356853;16356856;16627759;16684964;16831874;16978534;17047224;17135271;17158449;1716764;17428801;17496917;17948050;17998941;18024961;18772140;18775330;1898771;19279408;19350351;19920141;20300203;20478380;20685844;21102635;21372320;21779497;21779505;21933395;21966355;21993244;22569528;22589270;22728827;22750304;22798961;23103841;23303910;23443682;23575685;24897931;24937142;25219551;25330932;25781681;25892735;26085527;26992070;28228285;28778966;28832583;29242379;29485866;29508533;29557506;30315122;31135801;31409422;32350084;32387766;32502341;32983136;33141586;33691108;34509645;35051231;35251023;35580925;38253038;6148751;7809086;7935463;7972015;8052307;8394845;8493579;8665852;8710374;8939933;9604935;9927426", "class_list": "", "function": "Functions as a cation- and diacylglycerol (DAG)-regulated nucleotide exchange factor activating Ras through the exchange of bound GDP for GTP (PubMed:11880369, PubMed:11956218, PubMed:12493770, PubMed:18024961). In neutrophils, participates in a phospholipase C-activating N-formyl peptide-activated GPCR (G protein-coupled receptor) signaling pathway by promoting Ras-mediated activation of PIK3CG/PI3Kgamma to promote neutrophil functional responses (By similarity). In CD117(+) dendritic cells and mast cells, participates in an lipopolysaccharide (LPS)-activated signaling pathway that stimulates the production of interferon-gamma and other pro-inflammatory cytokines by natural killer (NK) cells (By similarity). May function in mast cell differentiation (PubMed:11880369, PubMed:11956218, PubMed:12493770, PubMed:18024961). Does not appear to be required for the development of B-cells, DC-cells, T-cells, or NK-cells (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; GPCR activation of Ras and PI3Kc in neutrophils depends on PLCb2/b3 and the RasGEF RasGRP4., [RefSeq, PubMed]; Identification of defective isoforms of hRasGRP4 transcripts in rheumatoid arthritis(RA) patients raises the possibility that dysregulated expression of hRasGRP4 in developing monocytes plays a pathogenic role in this subset of RA patients., [RefSeq, PubMed]; Identification of defective variants of this signaling protein in asthma, mastocytosis, and mast cell leukemia patients and demonstration of the importance of RasGRP4 in mast cell development and function GeneRIF: RasGRP4 is a cation-dependent, guanine nucleotide exchange factor and diacylglycerol/phorbol ester receptor that is selectively expressed in mast cells and their progenitors. RasGRP4 regulates the final stages of mast cell development., [RefSeq, PubMed]; Ras guanine nucleotide-releasing protein 4 is aberrantly expressed in the fibroblast-like synoviocytes of patients with rheumatoid arthritis and controls their proliferation., [RefSeq, PubMed]; RasGRP4 cooperates with AML1 mutations in T cell leukemogenesis as a class I mutation, [RefSeq, PubMed]; RasGRP4 plays a role in myeloid cell signaling growth regulation pathways that are responsive to diacylglycerol levels, [RefSeq, PubMed]; RasGRP4 regulates the expression of prostaglandin D2 in mast cells, [RefSeq, PubMed]; RasGRP4 translocates to varied intracellular compartments via its DAG/PMA-binding domain to regulate signaling pathways that control gene and protein expression in MCs, including the cell's ability to respond to IL-13., [RefSeq, PubMed]; The findings indicate the oncogenic role of RasGRP4 in diffuse large B cell lymphoma (DLBCL), suggesting it as a prognostic biomarker and potential therapeutic target in DLBCL. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be greatly enhanced by phorbol ester treatment, which suggested a role of this protein in diacylglycerol regulated cell signaling pathways. Studies of a mast cell leukemia cell line expressing substantial amounts of abnormal transcripts of this gene indicated that this gene may play an important role in the final stages of mast cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 19, "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": "A6H8M4;C0LTP2;C0LTP3;C0LTP4;C0LTP5;C0LTP7;C9J416;C9JHZ1;Q8N858;Q96QN5;Q96QN6;Q96QN7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0019992 diacylglycerol binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0002717 positive regulation of natural killer cell mediated immunity;GO:0007265 Ras protein signal transduction;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0030099 myeloid cell differentiation;GO:0140367 antibacterial innate immune response", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q8TDF6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WTQ7-1", "uniprot_id": [ { "id": "GRK7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WTQ7", "type": "external" } ], "mass": 62212.0, "length": 553, "protein_name": "Rhodopsin kinase GRK7", "gene_name": "GRK7", "organism": "Human", "refseq_name": "rhodopsin kinase GRK7", "refseq_ac": [ { "id": "NP_631948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_631948", "type": "external" } ], "gene_names_uniprotkb": "GRK7; GPRK7", "gene_names_refseq": "GPRK7; GRK7", "protein_names_uniprotkb": "Rhodopsin kinase GRK7; 2.7.11.14; G protein-coupled receptor kinase 7; G protein-coupled receptor kinase GRK7", "protein_names_refseq": "g protein-coupled receptor kinase GRK7; rhodopsin kinase GRK7", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:131890); (R-HSA-2514859)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10037746;10051575;10564809;10676965;11292825;11601986;11687658;11713293;11717351;11754336;12036349;12119397;12499365;12825937;1356371;1379636;1387789;1436039;14702087;15946941;16274222;16895762;16908407;17114291;17344846;17636946;18803695;19818506;1999465;20430952;20975703;22183412;22658984;2540796;2550422;2558719;3006923;30484775;31530632;3164688;34105348;35051231;4772407;6264430;7525588;7526403;7644482;7670478;7678445;7682292;7777544;7983048;8494894;8626439;8706659;8812493;9119368;9353336;9430683;9459445;9506952", "class_list": "", "function": "Defects in GRK1 or GRK7 cause patients to suffer from an inability to properly deactivate rhodopsin leading to problems with recovery and dark adaptation. Review article, [RefSeq, PubMed]; Phosphorylation of GRK1 and GRK7 by PKA occurs in the dark, when cAMP levels in photoreceptor cells are elevated., [RefSeq, PubMed]; Retina-specific kinase involved in the shutoff of the photoresponse and adaptation to changing light conditions via cone opsin phosphorylation, including rhodopsin (RHO)., [UniProtKB, PubMed]; This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. It is specifically expressed in the retina and the encoded protein has been shown to phosphorylate cone opsins and initiate their deactivation. [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": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.11.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.14", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0050254 rhodopsin kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0097381 photoreceptor disc membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007601 visual perception;GO:0009966 regulation of signal transduction;GO:0022400 regulation of opsin-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q8WTQ7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92619-1", "uniprot_id": [ { "id": "HMHA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92619", "type": "external" } ], "mass": 124614.0, "length": 1136, "protein_name": "Rho GTPase-activating protein 45", "gene_name": "ARHGAP45", "organism": "Human", "refseq_name": "rho GTPase-activating protein 45 isoform 2", "refseq_ac": [ { "id": "NP_001245257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245257", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP45; HMHA1; KIAA0223", "gene_names_refseq": "ARHGAP45; HA-1; HLA-HA1; HMHA1", "protein_names_uniprotkb": "Rho GTPase-activating protein 45", "protein_names_refseq": "histocompatibility (minor) HA-1; minor histocompatibility antigen HA-1; minor histocompatibility protein HA-1; rho GTPase-activating protein 45 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23526); (R-HSA-6798695); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 5, "publication_count": 399, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;10958358;10958683;11007481;11058585;11085924;11095984;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11920221;11948177;11961559;11965046;12071859;12093360;12096337;12172552;12195014;12218130;12221077;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12601144;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15866170;15897194;16002401;16112081;16116428;16184169;16202172;16217026;16243036;16399573;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16964243;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18220336;18249095;18347018;18363964;18396277;18426980;18653540;18786931;18829452;18835169;18838382;18929667;19269969;19367720;19494238;19605563;19635168;19673492;19690332;19713215;19934221;20030946;20058876;20101212;20166139;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22911862;22970203;22992742;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23650620;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24275569;24335996;24352656;24584464;24694533;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25418920;25428919;25505266;25576301;25704760;25721503;25795300;25810538;25862245;25880248;25892735;25963737;26095815;26129894;26154972;26299518;26371245;26375851;26529257;26598554;26811146;26887924;26929215;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;27893789;27920218;27986909;28028151;28112683;28114311;28196833;28228285;28514659;28584191;28825699;28832583;28834231;28855257;28860633;28904123;28939173;29089502;29146911;29174013;29242379;29314611;29351928;29358323;29382922;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30061681;30315122;30410026;30853411;31105010;31217245;31844290;31871319;32157095;32203420;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34211107;34509645;34561969;34932366;35051231;35561310;35580925;36241641;36284347;37938771;38740970;40914422;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8260714;8532022;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8670801;8692836;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8843592;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9268338;9305890;9405671;9418861;9438849;9461441;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9792683;9798702;9820595;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "ArhGAP45 acts as a Rac-GAP contributing to the balance between formation and disruption of endothelial junctions, which is required for the dynamic regulation of vascular permeability., [RefSeq, PubMed]; Contains a GTPase activator for the Rho-type GTPases (RhoGAP) domain that would be able to negatively regulate the actin cytoskeleton as well as cell spreading. However, also contains N-terminally a BAR-domin which is able to play an autoinhibitory effect on this RhoGAP activity., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; HMHA1 significantly promotes melanoma cells proliferation, invasion and migration, and prevents cell apoptosis., [RefSeq, PubMed]; Hypoxia- and Postirradiation reoxygenation-induced HMHA1/ARHGAP45 expression contributes to cancer cell invasion in a HIF-dependent manner., [RefSeq, PubMed]; Placental HA-1 expression is regulated by oxygen and is increased in the syncytial nuclear aggregates and syncytiotrophoblast of preeclamptic as compared to control placentas., [RefSeq, PubMed]; Precursor of the histocompatibility antigen HA-1. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. Specifically, mismatching for mHag HA-1 which is recognized as immunodominant, is shown to be associated with the development of severe GVHD after HLA-identical BMT. HA-1 is presented to the cell surface by MHC class I HLA-A*0201, but also by other HLA-A alleles. This complex specifically elicits donor-cytotoxic T-lymphocyte (CTL) reactivity against hematologic malignancies after treatment by HLA-identical allogenic BMT. It induces cell recognition and lysis by CTL., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DTS4;F6QP70;Q6P189;Q7LE26;Q86WS1;Q8HX84;Q9GJN9;Q9GJP0;Q9GJP1;Q9MY24", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0051058 negative regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 40.4, "record_id": "Q92619-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GX5-1", "uniprot_id": [ { "id": "GWL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GX5", "type": "external" } ], "mass": 97319.0, "length": 879, "protein_name": "Serine/threonine-protein kinase greatwall", "gene_name": "MASTL", "organism": "Human", "refseq_name": "serine/threonine-protein kinase greatwall isoform 1", "refseq_ac": [ { "id": "NP_001165774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165774", "type": "external" } ], "gene_names_uniprotkb": "MASTL; GWL; GW; THC2", "gene_names_refseq": "GREATWALL; GWL; GW; MAST-L; MASTL; THC2", "protein_names_uniprotkb": "Serine/threonine-protein kinase greatwall; 2.7.11.1; GWL; GW; MAST-L; Microtubule-associated serine/threonine-protein kinase-like; hGWL", "protein_names_refseq": "greatwall kinase homolog; greatwall protein kinase; serine/threonine-protein kinase greatwall isoform 1; serine/threonine-protein kinase greatwall", "tax_id": 9606, "disease": "thrombocytopenia (Disease Ontology:DOID:1588)", "pathway": " (hsa:84930); (R-HSA-2465910)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "11237011;12890928;16600872;16964243;17344846;18220336;18669648;18691976;19460416;19680222;19793917;20068231;20538976;20818157;21164013;21164014;21444715;22354989;23186163;23301498;24391510;24715725;25576301;25892735;26154972;26375851;26653855;26872783;26906418;26992070;27563826;27920218;28218747;28228285;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29769354;30484775;31492838;31844290;32157095;32265295;32387766;32574038;32692487;32897882;32983136;33141586;33298915;33582914;33592498;33627787;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34331012;35051231;35318648;35494241;35513511;35561310;35580925;35732702;36010968;36215666;36241641;36270968;36581221;37340703;38123684;39531497", "class_list": "", "function": "A novel missense mutation in the human gene FLJ14813 is associated with autosomal dominant thrombocytopenia GeneRIF: A paper that narrows the identity of the gene for autosomal dominant thrombocytopenia (THC2) to FLJ14813. The mutation is present in all affected people across three generations while is absent in unaffected family members & 94 random blood donors., [RefSeq, PubMed]; Knockdown of Microtubule Associated Serine/threonine Kinase Like Expression Inhibits Gastric Cancer Cell Growth and Induces Apoptosis by Activation of ERK1/2 and Inactivation of NF-kappaB Signaling., [RefSeq, PubMed]; MASTL regulates EGFR signaling to impact pancreatic cancer progression., [RefSeq, PubMed]; MASTL: A novel therapeutic target for Cancer Malignancy. Review article, [RefSeq, PubMed]; Mass-spectrometry-based proteomic correlates of grade and stage reveal pathways and kinases associated with aggressive human cancers., [RefSeq, PubMed]; SILAC kinase screen identifies potential MASTL substrates. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and maintenance (PubMed:19680222). Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly inhibit PP2A but acts by mediating phosphorylation and subsequent activation of ARPP19 and ENSA at 'Ser-62' and 'Ser-67', respectively (PubMed:38123684). ARPP19 and ENSA are phosphatase inhibitors that specifically inhibit the PPP2R2D (PR55-delta) subunit of PP2A. Inactivation of PP2A during M phase is essential to keep cyclin-B1-CDK1 activity high (PubMed:20818157). Following DNA damage, it is also involved in checkpoint recovery by being inhibited. Phosphorylates histone protein in vitro; however such activity is unsure in vivo. May be involved in megakaryocyte differentiation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [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": 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": 21, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 22, "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": "Q5T8D5;Q5T8D7;Q8NCD6;Q96SJ5", "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:0044325 transmembrane transporter binding;GO:0051721 protein phosphatase 2A binding;GO:0016301 kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0015630 microtubule cytoskeleton;GO:0032154 cleavage furrow", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0051301 cell division;GO:0000086 G2/M transition of mitotic cell cycle;GO:0006974 DNA damage response;GO:0007346 regulation of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q96GX5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQA5-1", "uniprot_id": [ { "id": "HINFP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQA5", "type": "external" } ], "mass": 59678.0, "length": 517, "protein_name": "Histone H4 transcription factor", "gene_name": "HINFP", "organism": "Human", "refseq_name": "histone H4 transcription factor isoform 2", "refseq_ac": [ { "id": "NP_001230188", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230188", "type": "external" } ], "gene_names_uniprotkb": "HINFP; MIZF; ZNF743", "gene_names_refseq": "HINFP; HiNF-P; MIZF; ZNF743", "protein_names_uniprotkb": "Histone H4 transcription factor; HiNF-P; Histone nuclear factor P; MBD2-interacting zinc finger protein; Methyl-CpG-binding protein 2-interacting zinc finger protein", "protein_names_refseq": "MBD2 (methyl-CpG-binding protein)-interacting zinc finger protein; MBD2-interacting zinc finger 1; MBD2-interacting zinc finger protein; histone H4 gene-specific protein HiNF-P; histone H4 transcription factor isoform 2; histone nuclear factor P; methyl-CpG-binding protein 2-interacting zinc finger protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:25988)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;11553631;14585971;14752047;15541338;15988025;17163457;17176114;17974976;18850719;19170105;19913121;20628086;23555621;25576301;26992070;27862975;28855257;28904123;29632046;31217245;31844290;32387766;33592498;33912179;33936100;35051231;35580925;36010968", "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]; Purified and functionally characterized the critical transcription factor HiNF-P, which is required for E2F-independent activation of the histone H4 multigene family, [RefSeq, PubMed]; Results suggest that cyclin-dependent kinase inhibitors selectively control stimulation of the histone H4 gene promoter by the p220(NPAT)/HiNF-P complex., [RefSeq, PubMed]; These results suggest that transcriptional repression of Rb by MIZF could be one of the critical determinants in myogenic differentiation., [RefSeq, PubMed]; This gene encodes a transcription factor that interacts with methyl-CpG-binding protein-2 (MBD2), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2011]., [RefSeq]; Transcriptional repressor that binds to the consensus sequence 5'-CGGACGTT-3' and to the RB1 promoter. Transcriptional activator that promotes histone H4 gene transcription at the G1/S phase transition in conjunction with NPAT. Also activates transcription of the ATM and PRKDC genes. Autoregulates its expression by associating with its own promoter., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPH6;B4DWB4;E9PQF4;Q96E65;Q9Y4M7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0015030 Cajal body", "go_biological_process": "GO:0001701 in utero embryonic development;GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9BQA5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXC1-1", "uniprot_id": [ { "id": "GP174_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXC1", "type": "external" } ], "mass": 38503.0, "length": 333, "protein_name": "Probable G protein-coupled receptor 174", "gene_name": "GPR174", "organism": "Human", "refseq_name": "probable G-protein coupled receptor 174", "refseq_ac": [ { "id": "NP_115942", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115942", "type": "external" } ], "gene_names_uniprotkb": "GPR174; FKSG79; GPCR17", "gene_names_refseq": "FKSG79; GPCR17; GPR174; LPS3; LYPSR3", "protein_names_uniprotkb": "Probable G protein-coupled receptor 174", "protein_names_refseq": "lysophosphatidylserine receptor 3; probable G-protein coupled receptor 174", "tax_id": 9606, "disease": "", "pathway": " (hsa:84636)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "12044878;23178570;25880248;28218747;28228285;29242379;30315122;30418433;31844290;32350084;32357974;33392160;34357683;35154160;35173706;35669778;36823105;38048360", "class_list": "", "function": "G protein-coupled receptor of lysophosphatidylserine (LysoPS) that plays different roles in immune response (PubMed:36823105). Plays a negative role in regulatory T-cell accumulation and homeostasis. Under inflammatory conditions where LysoPS production increases, contributes to the down-regulation of regulatory T-cell activity to favor effector response. Mediates the suppression of IL-2 production in activated T-lymphocytes leading to inhibition of growth, proliferation and differentiation of T-cells. Mechanistically, acts via G(s)-containing heterotrimeric G proteins to trigger elevated cyclic AMP levels and protein kinase A/PKA activity, which may in turn act to antagonize proximal TCR signaling. Plays an important role in the initial period of sepsis through the regulation of macrophage polarization and pro- and anti-inflammatory cytokine secretions. Upon testosterone treatment, acts as a receptor for CCL21 and subsequently triggers through G(q)-alpha and G(12)/G(13) proteins a calcium flux leading to chemotactic effects on activated B-cells. Signals via GNA13 and PKA to promote CD86 up-regulation by follicular B-cells., [UniProtKB, UniProtKB, PubMed]; GPR174 mRNA Acts as a Novel Prognostic Biomarker for Patients With Sepsis via Regulating the Inflammatory Response. Publication Status: Online-Only, [RefSeq, PubMed]; Gpr174 Knockout Alleviates DSS-Induced Colitis via Regulating the Immune Function of Dendritic Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis for ligand recognition and signaling of the lysophosphatidylserine receptors GPR34 and GPR174. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggested that GPR174 was a putative LysoPS receptor conjugating with Galpha(s), and its expression induced morphological changes in CHO cells by constitutively activating adenylyl cycles accompanied with cell conjunctions and delay of proliferation., [RefSeq, PubMed]; This gene encodes a protein belonging to the G protein-coupled receptor superfamily. These proteins are characterized by the presence of seven alpha-helical transmembrane domains, and they activate or interact with various endogenous or exogenous ligands, including neurotransmitters, hormones, and odorant and taste substances. This family member is classified as an orphan receptor because the cognate ligand has not been identified. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "Q2M3F7", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0045125 bioactive lipid receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0032703 negative regulation of interleukin-2 production;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9BXC1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYG8-1", "uniprot_id": [ { "id": "GSDMC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYG8", "type": "external" } ], "mass": 57692.0, "length": 508, "protein_name": "Gasdermin-C", "gene_name": "GSDMC", "organism": "Human", "refseq_name": "gasdermin-C", "refseq_ac": [ { "id": "NP_113603", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113603", "type": "external" } ], "gene_names_uniprotkb": "GSDMC; MLZE", "gene_names_refseq": "GSDMC; MLZE", "protein_names_uniprotkb": "Gasdermin-C; Melanoma-derived leucine zipper-containing extranuclear factor", "protein_names_refseq": "gasdermin-C; melanoma-derived leucine zipper, extra-nuclear factor; melanoma-derived leucine zipper-containing extranuclear factor", "tax_id": 9606, "disease": "lung adenocarcinoma (Disease Ontology:DOID:3910)", "pathway": " (hsa:56169)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11223543;17350798;19051310;23481700;27281216;29242379;29557506;30779550;31154438;32929201;33273635;33968037;34012073;34778452;35051231;35494241;36199146;37919059;38253038;38599239", "class_list": "", "function": "High Expression of GSDMC Is Associated with Poor Survival in Kidney Clear Cell Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Pore-forming protein that causes membrane permeabilization and pyroptosis (PubMed:27281216, PubMed:32929201, PubMed:34012073). Produced by the cleavage of gasdermin-C by caspase CASP8 in response to death signals (PubMed:32929201, PubMed:34012073). After cleavage, moves to the plasma membrane where it strongly binds to membrane inner leaflet lipids (PubMed:32929201, PubMed:34012073). Homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, triggering pyroptosis (PubMed:32929201, PubMed:34012073)., [UniProtKB, PubMed, PubMed, PubMed]; Study investigated the expression pattern of the GSDM family genes in the upper gastrointestinal epithelium and cancers., [RefSeq, PubMed]; System analysis based on the pyroptosis-related genes identifies GSDMC as a novel therapy target for pancreatic adenocarcinoma. Erratum:[J Transl Med. 2025 Oct 20;23(1):1130. doi: 10.1186/s12967-025-07200-z. PMID: 41116199] Publication Status: Online-Only, [RefSeq, PubMed]; The Pyroptosis-Related Signature Composed of GSDMC Predicts Prognosis and Contributes to Growth and Metastasis of Hepatocellular Carcinoma., [RefSeq, PubMed]; This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-C, N-terminal) binds to membranes and forms pores, triggering pyroptosis., [UniProtKB, PubMed, PubMed]; Two GWAS-identified variants are associated with lumbar spinal stenosis and Gasdermin-C expression in Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 20, "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": "Q5XKF3;Q6P494", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0001786 phosphatidylserine binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0042742 defense response to bacterium;GO:0070269 pyroptotic inflammatory response;GO:0012501 programmed cell death", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9BYG8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3N8-1", "uniprot_id": [ { "id": "HRH4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3N8", "type": "external" } ], "mass": 44496.0, "length": 390, "protein_name": "Histamine H4 receptor", "gene_name": "HRH4", "organism": "Human", "refseq_name": "histamine H4 receptor isoform 2", "refseq_ac": [ { "id": "NP_001137300", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137300", "type": "external" } ], "gene_names_uniprotkb": "HRH4; GPCR105", "gene_names_refseq": "AXOR35; BG26; GPCR105; GPRv53; H4R; H4; HH4R; HRH4", "protein_names_uniprotkb": "Histamine H4 receptor; AXOR35; G protein-coupled receptor 105; GPRv53; H4R; HH4R; Pfi-013; SP9144", "protein_names_refseq": "G-protein coupled receptor 105; SP9144; histamine H4 receptor isoform 2; histamine H4 receptor; pfi-013", "tax_id": 9606, "disease": "", "pathway": " (hsa:59340); (R-HSA-390650); (R-HSA-418594)", "pathway_count": 3, "publication_count": 42, "publication_id_list": "10347254;10633171;10973974;11007482;11118334;11179434;11179436;11181941;12069903;12120503;12503632;15951850;16634148;16923326;17005916;1714721;18157166;18434541;18452403;18577758;21036230;2155607;2534964;2553705;26948974;2748346;2834384;28832583;29600327;31583075;31848261;35227109;36091066;37217939;37300703;39333117;4401751;6120235;7937899;8015379;8280179;8406495", "class_list": "", "function": "G protein-coupled receptor primarily expressed in immune cells such as mast cells, eosinophils, basophils, dendritic cells and neutrophils that plays a key role in immune and inflammatory responses (PubMed:26948974). Mediates chemotaxis of immune cells to sites of inflammation or injury by responding to histamine (PubMed:26948974). Activation by histamine also influences the release of proinflammatory cytokines such as TNF, CCL4, IL6 and IFN-gamma (PubMed:29600327, PubMed:31583075). Ligand binding induces a conformation change that triggers signaling via G(i)/GNAI1 leading to decreased intracellular cAMP levels by inhibiting adenylate cyclase activity (PubMed:39333117). In addition, plays a role in the control of renal reabsorption processes, particularly albumin uptake (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Histamine H1- and H4-receptor expression in human colon-derived cell lines., [RefSeq, PubMed]; Histamine H4 Receptor Expression in Triple-negative Breast Cancer: An Exploratory Study., [RefSeq, PubMed]; Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]., [RefSeq]; Recombinant histamine 4 receptor (H4R) splice variants derived from cord blood cells have a dominant negative effect on functionality, as these H4R are retained intracellularly and inactivate a population of H4R, presumably via hetero-oligomerization., [RefSeq, PubMed]; Unraveling the venom chemistry with evidence for histamine as key regulator in the envenomation by caterpillar Automeris zaruma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 20, "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": "B0YJ19;B2KJ48;Q4G0I6;Q9GZQ0", "ec_number_list": [], "go_molecular_function": "GO:0030594 neurotransmitter receptor activity;GO:0004969 histamine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse", "go_biological_process": "GO:0006954 inflammatory response;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007197 adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9H3N8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H422-1", "uniprot_id": [ { "id": "HIPK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H422", "type": "external" } ], "mass": 133743.0, "length": 1215, "protein_name": "Homeodomain-interacting protein kinase 3", "gene_name": "HIPK3", "organism": "Human", "refseq_name": "homeodomain-interacting protein kinase 3 isoform 2", "refseq_ac": [ { "id": "NP_001041665", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041665", "type": "external" } ], "gene_names_uniprotkb": "HIPK3; DYRK6; FIST3; PKY", "gene_names_refseq": "DYRK6; FIST3; HIPK3; PKY; YAK1", "protein_names_uniprotkb": "Homeodomain-interacting protein kinase 3; 2.7.11.1; ANPK; Androgen receptor-interacting nuclear protein kinase; FIST; Fas-interacting serine/threonine-protein kinase; Homolog of protein kinase YAK1", "protein_names_refseq": "ANPK; FIST; androgen receptor-interacting nuclear protein kinase; fas-interacting serine/threonine-protein kinase; homeodomain-interacting protein kinase 3 isoform 2; homolog of protein kinase YAK1", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); depressive disorder (Disease Ontology:DOID:1596); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:10114)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "10961991;11034606;11237011;14766760;15592455;16497976;17210646;17344846;19901323;23481700;24714562;24715725;25576301;26154972;26728094;26992070;27600516;27846572;27862975;27920218;28228285;28446606;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;30315122;30429286;30524438;30779550;30833945;31092671;31154438;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32938750;32983136;33123756;33141586;33298915;33691108;33912179;33936100;33968037;34087483;34171305;34211107;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37253602;37938771;38012555;38105269;38246220;38904677;9373137;9725910", "class_list": "", "function": "CircHIPK3 relieves vascular calcification via mediating SIRT1/PGC-1alpha/MFN2 pathway by interacting with FUS. Publication Status: Online-Only, [RefSeq, PubMed]; CircHIPK3/miR-124 affects angiogenesis in early-onset preeclampsia via CPT1A-mediated fatty acid oxidation., [RefSeq, PubMed]; Circular RNA HIPK3 facilitates ferroptosis in gestational diabetes mellitus by regulating glutathione peroxidase 4 DNA methylation., [RefSeq, PubMed]; HIPK3 maintains sensitivity to platinum drugs and prevents disease progression in gastric cancer., [RefSeq, PubMed]; Overexpression of microRNA-205-5p promotes cholangiocarcinoma growth by reducing expression of homeodomain-interacting protein kinase 3. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase involved in transcription regulation, apoptosis and steroidogenic gene expression. Phosphorylates JUN and RUNX2. Seems to negatively regulate apoptosis by promoting FADD phosphorylation. Enhances androgen receptor-mediated transcription. May act as a transcriptional corepressor for NK homeodomain transcription factors. The phosphorylation of NR5A1 activates SF1 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation. In osteoblasts, supports transcription activation: phosphorylates RUNX2 that synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 38, "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": "O14632;Q2PBG4;Q2PBG5;Q92632;Q9HAS2", "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:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016604 nuclear body;GO:0016605 PML body", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0018107 peptidyl-threonine phosphorylation;GO:0018105 peptidyl-serine phosphorylation", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9H422-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP08-1", "uniprot_id": [ { "id": "HMX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP08", "type": "external" } ], "mass": 36155.0, "length": 348, "protein_name": "Homeobox protein HMX1", "gene_name": "HMX1", "organism": "Human", "refseq_name": "homeobox protein HMX1 isoform 2", "refseq_ac": [ { "id": "NP_001293071", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293071", "type": "external" } ], "gene_names_uniprotkb": "HMX1; H6", "gene_names_refseq": "H6; HMX1; NKX5-3", "protein_names_uniprotkb": "Homeobox protein HMX1; Homeobox protein H6", "protein_names_refseq": "H6 homeodomain protein; NK5 homeobox 3; homeobox protein H6; homeobox protein HMX1 isoform 2; homeobox protein HMX1", "tax_id": 9606, "disease": "oculoauricular syndrome (Disease Ontology:DOID:0060482)", "pathway": " (hsa:3166)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10206974;1360670;18423520;21417677;28411811;29140751;29557506;30315122;30379171;32502341;32552830;33298915;35051231;37938771", "class_list": "", "function": "DNA-binding protein that binds to the 5'-CAAG-3' core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear., [UniProtKB, PubMed]; Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia. Publication Status: Online-Only, [RefSeq, PubMed]; Linkage analysis and mutation screening revealed in the first exon of the NKX5-3 gene a homozygous 26 nucleotide deletion, generating a truncating protein that lacked the complete homeodomain., [RefSeq, PubMed]; Mutation analysis revealed a novel homozygous nonsense mutation c.487G>T in the second exon of the HMX1 that predicted to introduce a premature stop codon at position 163 (p.E163*)., [RefSeq, PubMed]; The retinal degeneration in the recessively inherited oculo-auricular syndrome is a progressive rod-cone dystrophy., [RefSeq, PubMed]; This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "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": "", "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: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", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9NP08-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZH0-1", "uniprot_id": [ { "id": "GPC5B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZH0", "type": "external" } ], "mass": 44795.0, "length": 403, "protein_name": "G protein-coupled receptor family C group 5 member B", "gene_name": "GPRC5B", "organism": "Human", "refseq_name": "G-protein coupled receptor family C group 5 member B isoform 1 precursor", "refseq_ac": [ { "id": "NP_057319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057319", "type": "external" } ], "gene_names_uniprotkb": "GPRC5B; RAIG2", "gene_names_refseq": "GPRC5B; MLC3; RAIG-2; RAIG2", "protein_names_uniprotkb": "G protein-coupled receptor family C group 5 member B; A-69G12.1; RAIG-2; Retinoic acid-induced gene 2 protein", "protein_names_refseq": "G protein-coupled receptor, family C, group 1, member B; G-protein coupled receptor family C group 5 member B isoform 1 precursor; G-protein coupled receptor family C group 5 member B; retinoic acid responsive gene protein; retinoic acid-induced gene 2 protein", "tax_id": 9606, "disease": "megalencephalic leukoencephalopathy with subcortical cysts (Disease Ontology:DOID:0080315); megalencephalic leukoencephalopathy with subcortical cysts 3 (MONDO:MONDO:0957533)", "pathway": " (hsa:51704)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10783259;10945465;11237011;18510355;24404583;27862975;29557506;31154438;31844290;32938616;34171305;35046932;35051231;36682796;37143309", "class_list": "", "function": "G protein-coupled receptor involved in the regulation of cell volume., [UniProtKB, PubMed]; GPRC5B (G protein-coupled receptor class C group 5 member B) suppresses glucose starvation-induced apoptosis in head-and-neck squamous cell carcinoma., [RefSeq, PubMed]; Multi-Omics Analysis for Transcriptional Regulation of Immune-Related Targets Using Epigenetic Data: A New Research Direction. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The encoded protein may modulate insulin secretion and increased protein expression is associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]., [RefSeq]; This study proposes that increased expression of GPRC5B contributes to the reduced insulin secretion and beta-cell viability observed in type-2 diabetes., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "D2DFB0;O75205;Q8NBZ8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0019901 protein kinase binding;GO:0001664 G protein-coupled receptor binding;GO:0030295 protein kinase activator activity;GO:1990782 protein tyrosine kinase binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex;GO:0045121 membrane raft", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0006884 cell volume homeostasis", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9NZH0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "S4R3P1-1", "uniprot_id": [ { "id": "HMN13_HUMAN", "url": "https://www.uniprot.org/uniprot/S4R3P1", "type": "external" } ], "mass": 2751.0, "length": 24, "protein_name": "Humanin-like 13", "gene_name": "MTRNR2L13", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MTRNR2L13", "gene_names_refseq": "", "protein_names_uniprotkb": "Humanin-like 13; HN13; MT-RNR2-like protein 13", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "19477263", "class_list": "", "function": "Plays a role as a neuroprotective and antiapoptotic factor., [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:0048019 receptor antagonist activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm", "go_biological_process": "GO:1900118 negative regulation of execution phase of apoptosis", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "S4R3P1-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "S4R3Y5-1", "uniprot_id": [ { "id": "HMN11_HUMAN", "url": "https://www.uniprot.org/uniprot/S4R3Y5", "type": "external" } ], "mass": 2737.0, "length": 24, "protein_name": "Humanin-like 11", "gene_name": "MTRNR2L11", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MTRNR2L11", "gene_names_refseq": "", "protein_names_uniprotkb": "Humanin-like 11; HN11; MT-RNR2-like protein 11", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "19477263", "class_list": "", "function": "Plays a role as a neuroprotective and antiapoptotic factor., [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:0048019 receptor antagonist activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm", "go_biological_process": "GO:1900118 negative regulation of execution phase of apoptosis", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "S4R3Y5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6R2-1", "uniprot_id": [ { "id": "HV404_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6R2", "type": "external" } ], "mass": 12848.0, "length": 117, "protein_name": "Immunoglobulin heavy variable 4-4", "gene_name": "IGHV4-4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV4-4", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 4-4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "11340299;17576170;20176268;22158414;24600447;29557506;32350084;32357974", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 463, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A0A075B6R2-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0B4J1U7-1", "uniprot_id": [ { "id": "HV601_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0B4J1U7", "type": "external" } ], "mass": 13481.0, "length": 121, "protein_name": "Immunoglobulin heavy variable 6-1", "gene_name": "IGHV6-1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV6-1", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 6-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11340299;17576170;20176268;22158414;24600447;30429286", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 455, "reported_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": 0.7, "record_id": "A0A0B4J1U7-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0B4J1V0-1", "uniprot_id": [ { "id": "HV315_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0B4J1V0", "type": "external" } ], "mass": 12926.0, "length": 119, "protein_name": "Immunoglobulin heavy variable 3-15", "gene_name": "IGHV3-15", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV3-15", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 3-15", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "11340299;17576170;20176268;22158414;24600447;32387766;36284347", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 511, "reported_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": 0.8, "record_id": "A0A0B4J1V0-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0J9YVY3-1", "uniprot_id": [ { "id": "HV741_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0J9YVY3", "type": "external" } ], "mass": 12849.0, "length": 117, "protein_name": "Immunoglobulin heavy variable 7-4-1", "gene_name": "IGHV7-4-1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV7-4-1", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 7-4-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11340299;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 315, "reported_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": 0.6, "record_id": "A0A0J9YVY3-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GWH4-1", "uniprot_id": [ { "id": "HSFX3_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GWH4", "type": "external" } ], "mass": 37128.0, "length": 333, "protein_name": "Heat shock transcription factor, X-linked member 3", "gene_name": "HSFX3", "organism": "Human", "refseq_name": "heat shock transcription factor, X-linked member 3", "refseq_ac": [ { "id": "NP_001310008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310008", "type": "external" } ], "gene_names_uniprotkb": "HSFX3", "gene_names_refseq": "HSFX3", "protein_names_uniprotkb": "Heat shock transcription factor, X-linked member 3", "protein_names_refseq": "heat shock transcription factor, X-linked member 3; heat shock transcription factor, X-linked-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:101928917)", "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: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:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1B0GWH4-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31249-1", "uniprot_id": [ { "id": "HXD3_HUMAN", "url": "https://www.uniprot.org/uniprot/P31249", "type": "external" } ], "mass": 45730.0, "length": 432, "protein_name": "Homeobox protein Hox-D3", "gene_name": "HOXD3", "organism": "Human", "refseq_name": "homeobox protein Hox-D3", "refseq_ac": [ { "id": "NP_008829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008829", "type": "external" } ], "gene_names_uniprotkb": "HOXD3; HOX1D; HOX4A", "gene_names_refseq": "HOX1D; HOX4A; HOX4; HOXD3; Hox-4.1", "protein_names_uniprotkb": "Homeobox protein Hox-D3; Homeobox protein Hox-4A", "protein_names_refseq": "Hox-4.1, mouse, homolog of; homeo box D3; homeobox protein Hox-4A; homeobox protein Hox-D3", "tax_id": 9606, "disease": "", "pathway": " (hsa:3232); (R-HSA-5617472)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10228016;10777502;11237011;1358204;15867264;16079151;16549775;17185360;17428788;1756725;17660710;17713478;17761849;17851529;18781158;19115252;19232136;19747919;1975088;19782034;19854132;20085832;22569366;22705304;22879880;23219899;23534758;23630040;24174538;24312487;24586203;25101834;25135475;2570724;2576652;25913784;32557953;34928233;35709926;37827698;7488013;7501971;7831296;7906964;7908827;8674428;8759021;9218805;9272954;9482740", "class_list": "", "function": "A pan-cancer analysis of the role of HOXD1, HOXD3, and HOXD4 and validation in renal cell carcinoma., [RefSeq, PubMed]; HOXD3 Up-regulating KDM5C Promotes Malignant Progression of Diffuse Large B-Cell Lymphoma by Decreasing p53 Expression, [RefSeq, PubMed]; HOXD3 was negatively regulated by YY1 recruiting HDAC1 to suppress progression of hepatocellular carcinoma cells via ITGA2 pathway., [RefSeq, PubMed]; Identification and validation of HOXD3 and UNC5C as molecular signatures in keloid based on weighted gene co-expression network analysis., [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 belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q99955;Q9BSC5", "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:0030878 thyroid gland development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007219 Notch signaling pathway;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "P31249-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05362-1", "uniprot_id": [ { "id": "ICAM1_HUMAN", "url": "https://www.uniprot.org/uniprot/P05362", "type": "external" } ], "mass": 57825.0, "length": 532, "protein_name": "Intercellular adhesion molecule 1", "gene_name": "ICAM1", "organism": "Human", "refseq_name": "intercellular adhesion molecule 1 precursor", "refseq_ac": [ { "id": "NP_000192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000192", "type": "external" } ], "gene_names_uniprotkb": "ICAM1", "gene_names_refseq": "BB2; CD54; ICAM1; P3.58", "protein_names_uniprotkb": "Intercellular adhesion molecule 1; ICAM-1; Major group rhinovirus receptor", "protein_names_refseq": "ICAM-1; cell surface glycoprotein P3.58; epididymis secretory sperm binding protein; intercellular adhesion molecule 1 (CD54), human rhinovirus receptor; intercellular adhesion molecule 1 precursor; major group rhinovirus receptor", "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); malaria, susceptibility to (MONDO:MONDO:0021024)", "pathway": " (hsa:3383); (R-HSA-198933); (R-HSA-216083); (R-HSA-6783783); (R-HSA-6785807); (R-HSA-877300)", "pathway_count": 6, "publication_count": 435, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10023775;10067896;10092818;10209034;10219247;10366422;10369418;10391210;10415057;10417733;10433356;10438935;10499918;10510379;10543983;10562537;10586089;10593924;10605720;10640428;10673366;10699175;10713152;10746781;10811134;10867011;10982388;10986460;11058569;11084045;11104795;11120780;11158588;11160747;11173916;11237011;11265639;11278437;11278729;11356008;11404481;11413168;11463377;11489943;11513152;11518510;11556966;11572855;11713259;11807247;11857637;11858820;11861603;11955593;11955595;11955599;11960372;11972023;11980922;12040185;12213321;12223527;12242343;12438563;12446674;12483297;12496264;12526797;12554859;12585966;12588680;12600988;12626585;12682293;12807887;12832402;12915721;1396683;14586410;1460289;14634100;14712222;14719373;14722222;14970179;15034010;1508672;15099525;15116091;15136729;15143187;15155468;15187158;15240572;15261459;15304001;15322115;15330449;15345499;15383545;15388922;15530433;15534202;15541655;15572059;15580655;15584925;15607800;15713743;15778510;15781451;15800062;15805299;15851719;15864273;15869882;1588291;15899827;15919823;15950906;16002701;16004874;16007214;16014749;16048438;16051604;16091383;16107692;16129954;16205632;16236134;16237089;16239428;16335952;16339513;16380601;16397018;16432463;16451196;16467876;16510571;16540365;16551255;16606674;16731529;16737824;16754661;16754721;1680919;16893496;16904340;16928187;16933105;16982608;17045824;17057721;17125875;17174307;17237375;17337780;17339034;17427945;17458857;17572495;17704297;17875742;17968485;18031695;18037897;18055229;18209062;18234675;18243101;18353781;18362138;18447642;18591661;18593354;18644974;18669648;18710925;18775695;19124156;19139490;19149696;19159218;19185846;19306055;19349973;19359216;19397496;1940369;1940799;19502598;19592130;1968231;1980124;19822019;1983003;20033473;20049711;20068231;2010551;20130243;20145033;20304997;20363976;20493732;20705068;20730098;21102457;21241660;21252155;21689689;21730069;21800138;21841309;21877119;21937440;21994466;22046235;22205702;22294843;22383755;22396535;22433250;22539938;22562265;22693070;22851691;22884367;23061660;23079714;23086340;23090970;23124025;23172665;23186163;23374253;23455323;23481700;23555662;23584533;23609612;23695528;23858057;23929856;23967200;24041930;24097101;24190977;24275569;24289603;24305946;24417533;24714562;24715725;24743777;25234944;2538243;2544880;25502872;25505266;25576301;25645385;25659662;25703557;25716998;26154972;26284469;26300885;27090790;27846572;27920218;28228285;28467828;28816939;28832583;28871256;28904123;29242379;29317506;29508533;29557506;29741879;30315122;30410026;30626607;30833945;3086451;31217245;31611695;31844290;31848261;31937595;31998317;32157095;32195055;32350084;32488085;32502341;32582936;32938616;32983136;33043033;33141586;33214551;33239784;33298915;3340213;3349522;33592498;33912179;33936100;33968037;33981976;34019948;34078123;34211107;34357683;34433824;34561969;35051231;35154160;35251023;35580925;36215666;36284347;37074911;38195629;39056795;39168965;39201551;39409189;39425874;40914422;7505120;7510216;7512027;7512451;7514165;7516408;7525451;7525578;7529288;7530745;7531291;7541634;7542249;7542404;7543512;7559467;7593617;7594602;7615558;7617032;7657660;7673114;7684412;7685013;7687627;7690989;7795521;7796299;7796300;7898939;7902377;7907877;8063757;8085155;8102388;8118028;8120391;8156998;8163946;8176225;8178173;8186324;8301137;8344274;8483949;8530158;8537680;8550631;8557254;8560266;8602263;8621622;8631301;8662928;8663118;8668165;8734788;8742066;8797861;8798654;8816495;8838667;8871669;8897595;8910398;8910476;8921438;8946277;8995416;9013879;9013939;9111318;9143706;9251239;9259284;9285412;9312047;9314561;9354687;9443892;9449724;9539702;9539703;9550426;9565552;9651359;9700512;9723655;9730896;9736340;9794440;9822675;9836587;9858236;9861406;9874564;9918218", "class_list": "glycogene", "function": "(Microbial infection) Acts as a receptor for Coxsackievirus A21 capsid proteins., [UniProtKB, PubMed, PubMed, PubMed]; (Microbial infection) Acts as a receptor for major receptor group rhinovirus A-B capsid proteins., [UniProtKB, PubMed, PubMed]; (Microbial infection) Upon Kaposi's sarcoma-associated herpesvirus/HHV-8 infection, is degraded by viral E3 ubiquitin ligase MIR2, presumably to prevent lysis of infected cells by cytotoxic T-lymphocytes and NK cell., [UniProtKB, PubMed]; Analysis of ICAM-1 rs3093030, VCAM-1 rs3783605, and E-Selectin rs1805193 Polymorphisms in African Women Living with HIV and Preeclampsia. Publication Status: Online-Only, [RefSeq, PubMed]; Association of polymorphism of NLRP3, ICAM-1, PTPN22, INS genes in childhood onset type 1 diabetes in a Pakistani population. Publication Status: Online-Only, [RefSeq, PubMed]; Cell adhesion molecule that functions as a receptor ligand of the signaling receptor ITGAL:ITGB2/LFA-1 (lymphocyte-function associated (LFA) molecule 1) ensuring leukocyte cell-cell adhesion, by providing a calibrated system to namely adjust T-cell killing to the antigen stimulation strength (PubMed:3086451, PubMed:3340213, PubMed:38195629). Also functions as a ligand receptor of the signaling receptor ITGAM:ITGB2/MAC-1 ensuring adhesion between stimulated neutrophils and stimulated endothelial cells (PubMed:1980124). During leukocyte trans-endothelial migration, ICAM1 engagement promotes the assembly of endothelial apical cups through ARHGEF26/SGEF and RHOG activation (PubMed:17875742). Promotes cell aggregation in epithelial cells through interaction with MUC1 (PubMed:11173916)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Differentiating Stages of Bipolar and Unipolar Depression-The Possible Role of sICAM-1 and sVCAM-1. Publication Status: Online-Only, [RefSeq, PubMed]; ICAM1 (CD54) Contributes to the Metastatic Capacity of Gastric Cancer Stem Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Neoplastic ICAM-1 protects lung carcinoma from apoptosis through ligation of fibrinogen. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [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": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 685, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring; prognostic", "glycan_count": 112, "disease_count": 88, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B2R6M3;Q5NKV7;Q96B50", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005178 integrin binding;GO:0001618 virus receptor activity;GO:0048018 receptor ligand activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0022614 membrane to membrane docking;GO:0061028 establishment of endothelial barrier;GO:0001910 regulation of leukocyte mediated cytotoxicity;GO:0044406 adhesion of symbiont to host;GO:0002291 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell", "synthesized_glycan_count": 0, "hit_score": 56.1, "record_id": "P05362-1", "record_type": "protein", "filter_code": "0101000.1000111.100000.000000000001000000.1100000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17481-1", "uniprot_id": [ { "id": "HXB8_HUMAN", "url": "https://www.uniprot.org/uniprot/P17481", "type": "external" } ], "mass": 27574.0, "length": 243, "protein_name": "Homeobox protein Hox-B8", "gene_name": "HOXB8", "organism": "Human", "refseq_name": "homeobox protein Hox-B8", "refseq_ac": [ { "id": "NP_076921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076921", "type": "external" } ], "gene_names_uniprotkb": "HOXB8; HOX2D", "gene_names_refseq": "HOX2D; HOX2; HOXB8; Hox-2.4", "protein_names_uniprotkb": "Homeobox protein Hox-B8; Homeobox protein Hox-2.4; Homeobox protein Hox-2D", "protein_names_refseq": "homeo box 2D; homeo box B8; homeobox protein Hox-2.4; homeobox protein Hox-2D; homeobox protein Hox-B8", "tax_id": 9606, "disease": "trichotillomania (Disease Ontology:DOID:0050587)", "pathway": " (hsa:3218)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;11857506;2570724;2576652;25892735;31646435;32989886;34098015;34432948;34445617;7791786;9191052", "class_list": "", "function": "HOXB8 Counteracts MAPK/ERK Oncogenic Signaling in a Chicken Embryo Model of Neoplasia. Publication Status: Online-Only, [RefSeq, PubMed]; Homeobox B8 Targets Sterile Alpha Motif Domain-Containing Protein 9 and Drives Glioma Progression., [RefSeq, PubMed]; LINC01116 boosts the progression of pituitary adenoma via regulating miR-744-5p/HOXB8 pathway., [RefSeq, PubMed]; Pharmacological Inhibition of Core Regulatory Circuitry Liquid-liquid Phase Separation Suppresses Metastasis and Chemoresistance in Osteosarcoma., [RefSeq, PubMed]; SNHG3/miR-2682-5p/HOXB8 promotes cell proliferation and migration in oral squamous cell carcinoma., [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, UniProtKB, UniProtKB, 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 development. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9H1I2", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045638 negative regulation of myeloid cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "P17481-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43301-1", "uniprot_id": [ { "id": "HS12A_HUMAN", "url": "https://www.uniprot.org/uniprot/O43301", "type": "external" } ], "mass": 74978.0, "length": 675, "protein_name": "Heat shock 70 kDa protein 12A", "gene_name": "HSPA12A", "organism": "Human", "refseq_name": "heat shock 70 kDa protein 12A isoform 2", "refseq_ac": [ { "id": "NP_079291", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079291", "type": "external" } ], "gene_names_uniprotkb": "HSPA12A; KIAA0417", "gene_names_refseq": "HSPA12A", "protein_names_uniprotkb": "Heat shock 70 kDa protein 12A; Heat shock protein family A member 12A", "protein_names_refseq": "heat shock 70 kDa protein 12A isoform 2; heat shock 70kD protein 12A; heat shock 70kDa protein 12A; heat shock protein family A member 12A", "tax_id": 9606, "disease": "", "pathway": " (hsa:259217); (R-HSA-3371453)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10954706;11237011;11747420;12552099;12853476;12917326;12974469;15364926;15601604;15802566;1586970;16278218;1754405;17601350;18235501;18235502;18550409;18669648;18977241;19229036;19413330;19914676;22465953;22541429;22735644;22940245;23349863;24715725;25645385;28657654;29557506;30484775;30679749;30779550;31217245;31844290;31848261;32157095;32938616;33392160;33968037;33981976;34087483;34171305;34561969;35050463;35051231;36215666;36394206;37245169;37938771;37942840;7585962;8721986;8946918;9305631;9873016;9920933", "class_list": "", "function": "Adapter protein for SORL1, but not SORT1. Delays SORL1 internalization and affects SORL1 subcellular localization., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Alternative splicing of HSPA12A pre-RNA by SRSF11 contributes to metastasis potential of colorectal cancer., [RefSeq, PubMed]; HSPA12A was identified as a key driver in colorectal cancer GWAS loci 10q26.12 and modulated by an enhancer-promoter interaction., [RefSeq, PubMed]; Heat shock protein A12A activates migration of hepatocellular carcinoma cells in a monocarboxylate transporter 4-dependent manner., [RefSeq, PubMed]; Heat-shock protein A12A attenuates oxygen-glucose deprivation/reoxygenation-induced human brain microvascular endothelial cell dysfunction via PGC-1alpha/SIRT3 pathway., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; We found that HSPA12A is expressed in the human brain and shows a neuron- and region-specific transcript distribution, with strongest expression in the frontal and occipital cortical regions. HSPA12A Mrna was significantly reduced in schizophrenia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "O43301-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75144-1", "uniprot_id": [ { "id": "ICOSL_HUMAN", "url": "https://www.uniprot.org/uniprot/O75144", "type": "external" } ], "mass": 33349.0, "length": 302, "protein_name": "ICOS ligand", "gene_name": "ICOSLG", "organism": "Human", "refseq_name": "ICOS ligand isoform b precursor", "refseq_ac": [ { "id": "NP_001269979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979", "type": "external" } ], "gene_names_uniprotkb": "ICOSLG; B7H2; B7RP1; ICOSL; KIAA0653", "gene_names_refseq": "B7-H2; B7H2; B7RP-1; B7RP1; B7h; CD275; GL50; ICOS-L; ICOSLG; ICOSL; IMD119; LICOS", "protein_names_uniprotkb": "ICOS ligand; B7 homolog 2; B7-H2; B7-like protein Gl50; B7-related protein 1; B7RP-1", "protein_names_refseq": "B7 homolog 2; B7 homologue 2; B7-like protein Gl50; B7-related protein 1; ICOS ligand isoform b precursor; transmembrane protein B7-H2 ICOS ligand", "tax_id": 9606, "disease": "immunodeficiency 119 (Disease Ontology:DOID:0061085)", "pathway": " (hsa:23308); (R-HSA-9927354)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10.1101/2023.09.13.557529;10657606;10779774;11007762;11023515;11237011;11390480;12538664;15007255;15870016;16335952;23090970;23345538;24190977;24714562;25418920;25469497;26154972;26728094;26811146;26929215;26992070;28218747;28484017;28832583;28834231;28871256;29242379;29393594;29437277;29508533;29632046;29632711;29786170;30237853;30498080;30524438;31611695;31844290;32265295;32387766;32502341;32574038;32897882;32938616;32983136;33691108;34087483;35051231;35154160;35251023;37847858;37850501;38077334;38081339;39113896", "class_list": "", "function": "Epstein-Barr virus-encoded EBNA2 downregulates ICOSL by inducing miR-24 in B-cell lymphoma., [RefSeq, PubMed]; Expression and prognosis of inducible T-cell co-stimulator and its ligand in Chinese stage I-III lung adenocarcinoma patients., [RefSeq, PubMed]; ICOS-ICOSL pathway enhances NKT-like cell antiviral function in pregnant women with COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; ICOSLG acts as an oncogene to promote glycolysis, proliferation, migration, and invasion in gastric cancer cells., [RefSeq, PubMed]; Ligand for the T-cell-specific cell surface receptor ICOS. Acts as a costimulatory signal for T-cell proliferation and cytokine secretion (PubMed:11007762, PubMed:11023515, PubMed:30498080). Also induces B-cell proliferation and differentiation into plasma cells. Could play an important role in mediating local tissue responses to inflammatory conditions, as well as in modulating the secondary immune response by co-stimulating memory T-cell function (By similarity). In endothelial cells, required for proper neutrophil transmigration in response to chemoattractants, such as CXCL8/IL8 or N-formyl-methionyl peptides (fMLP) (PubMed:30498080)., [UniProtKB, PubMed, PubMed, PubMed]; Role of the co-stimulatory molecule inducible T-cell co-stimulator ligand (ICOSL) in the progression of experimental metabolic dysfunction-associated steatohepatitis. 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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, 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"https://www.uniprot.org/uniprot/P01767", "type": "external" } ], "mass": 12770.0, "length": 116, "protein_name": "Immunoglobulin heavy variable 3-53", "gene_name": "IGHV3-53", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV3-53", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 3-53; Ig heavy chain V-III region BUT", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 532, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, 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"uniprot_id": [ { "id": "HV434_HUMAN", "url": "https://www.uniprot.org/uniprot/P06331", "type": "external" } ], "mass": 13815.0, "length": 123, "protein_name": "Immunoglobulin heavy variable 4-34", "gene_name": "IGHV4-34", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV4-34", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 4-34; Ig heavy chain V-II region ARH-77", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 542, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 581, "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": "A0A0A0MS12;A0A0G2JP38", "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:0006955 immune response;GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 54.3, "record_id": "P06331-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08700-1", "uniprot_id": [ { "id": "IL3_HUMAN", "url": "https://www.uniprot.org/uniprot/P08700", "type": "external" } ], "mass": 17233.0, "length": 152, "protein_name": "Interleukin-3", "gene_name": "IL3", "organism": "Human", "refseq_name": "interleukin-3 precursor", "refseq_ac": [ { "id": "NP_000579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000579", "type": "external" } ], "gene_names_uniprotkb": "IL3", "gene_names_refseq": "IL-3; IL3; MCGF; MULTI-CSF", "protein_names_uniprotkb": "Interleukin-3; Hematopoietic growth factor; IL-3; MCGF; Mast cell growth factor; Multipotential colony-stimulating factor; P-cell-stimulating factor", "protein_names_refseq": "P-cell stimulating factor; colony-stimulating factor, multiple; hematopoietic growth factor; interleukin-3 precursor; mast-cell growth factor; multilineage-colony-stimulating factor; multipotential colony-stimulating factor", "tax_id": 9606, "disease": "Graves ophthalmopathy (Disease Ontology:DOID:0081120); Alzheimer's disease (Disease Ontology:DOID:10652); prostatic hypertrophy (Disease Ontology:DOID:11132); pyelonephritis (Disease Ontology:DOID:11400); Graves' disease (Disease Ontology:DOID:12361); major depressive disorder (Disease Ontology:DOID:1470); pancreatic cancer (Disease Ontology:DOID:1793); asthma (Disease Ontology:DOID:2841); osteosarcoma (Disease Ontology:DOID:3347); Ebola virus disease (Disease Ontology:DOID:4325); rheumatoid arthritis (Disease Ontology:DOID:7148); genital herpes (Disease Ontology:DOID:8704); psoriasis (Disease Ontology:DOID:8893); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3562); (R-HSA-512988); (R-HSA-5673001); (R-HSA-8939247); (R-HSA-912526)", "pathway_count": 5, "publication_count": 114, "publication_id_list": "10207047;10207087;10455108;10477686;10477722;10508167;10570274;10779277;10869344;10949031;10982827;11027663;11090077;11136978;11313946;11328862;11340297;11546808;11702783;12032311;12094235;12121613;12816992;1396555;1400495;14506247;1465135;14707138;14970218;15356145;1545823;15546878;16627759;16684964;1702217;1716764;17998941;1833064;1833065;18692472;18775330;1898771;19279408;19920141;20478380;2065657;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23226269;23303910;23443682;23575685;24897931;24937142;25219551;2544122;2555171;2556442;25781681;26060100;26085527;2681215;27862234;28778966;29374162;29557506;31135801;3127463;32889153;3489530;3497843;35971333;36729088;36911737;37160117;37453342;38356460;6148751;7513165;7651724;7809086;7935463;7972015;8007942;8052307;8084588;8294403;8394845;8483502;8493579;8647804;8665852;8676386;8710374;8939933;8947042;9030599;9099679;9108392;9111318;9162089;9422786;9604935;9685210;9766809;9885561;9927426", "class_list": "", "function": "Conformational and binding mode assessment of the human IL-3 recognition by its alpha receptor., [RefSeq, PubMed]; Cytokine secreted predominantly by activated T-lymphocytes as well as mast cells and osteoblastic cells that controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells (PubMed:2556442). Also stimulates mature basophils, eosinophils, and monocytes to become functionally activated (PubMed:10779277, PubMed:32889153). In addition, plays an important role in neural cell proliferation and survival (PubMed:23226269). Participates as well in bone homeostasis and inhibits osteoclast differentiation by preventing NF-kappa-B nuclear translocation and activation (PubMed:12816992). Mechanistically, exerts its biological effects through a receptor composed of IL3RA subunit and a signal transducing subunit IL3RB (PubMed:29374162). Receptor stimulation results in the rapid activation of JAK2 kinase activity leading to STAT5-mediated transcriptional program (By similarity). Alternatively, contributes to cell survival under oxidative stress in non-hematopoietic systems by activating pathways mediated by PI3K/AKT and ERK (PubMed:27862234)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; ETV6::ACSL6 translocation-driven super-enhancer activation leads to eosinophilia in acute lymphoblastic leukemia through IL-3 overexpression. Publication Status: Online-Only, [RefSeq, PubMed]; Interleukin-3 coordinates glial-peripheral immune crosstalk to incite multiple sclerosis., [RefSeq, PubMed]; Interleukin-3 protects against viral pneumonia in sepsis by enhancing plasmacytoid dendritic cell recruitment into the lungs and T cell priming. Publication Status: Online-Only, [RefSeq, PubMed]; Quantitative estimation of TNF-alpha and IL-3 by using ELISA from human lung tissue in fatal asphyxial deaths., [RefSeq, PubMed]; The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [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": 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 14, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6GS87", "ec_number_list": [], "go_molecular_function": "GO:0005135 interleukin-3 receptor binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0035162 embryonic hemopoiesis;GO:0038156 interleukin-3-mediated signaling pathway;GO:0006955 immune response;GO:0007267 cell-cell signaling;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "P08700-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000100010000.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09630-1", "uniprot_id": [ { "id": "HXC6_HUMAN", "url": "https://www.uniprot.org/uniprot/P09630", "type": "external" } ], "mass": 26915.0, "length": 235, "protein_name": "Homeobox protein Hox-C6", "gene_name": "HOXC6", "organism": "Human", "refseq_name": "homeobox protein Hox-C6 isoform 1", "refseq_ac": [ { "id": "NP_004494", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004494", "type": "external" } ], "gene_names_uniprotkb": "HOXC6; HOX3C", "gene_names_refseq": "CP25; HHO.C8; HOX3C; HOX3; HOXC6", "protein_names_uniprotkb": "Homeobox protein Hox-C6; Homeobox protein CP25; Homeobox protein HHO.C8; Homeobox protein Hox-3C", "protein_names_refseq": "homeo box 3C; homeo box C8 protein; homeobox protein CP25; homeobox protein HHO.C8; homeobox protein Hox-3C; homeobox protein Hox-C6 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3223)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;2576652;26992070;2885844;28904123;2898768;30620550;30779550;30833945;31217245;31271305;32157095;33392160;33912179;34087483;34171305;34950145;35008435;35468304;37202556;39212391;8870653", "class_list": "", "function": "HOXC6-Mediated miR-188-5p Expression Induces Cell Migration through the Inhibition of the Tumor Suppressor FOXN2. Publication Status: Online-Only, [RefSeq, PubMed]; High expression of HOXC6 predicts a poor prognosis and induces proliferation and inflammation in multiple myeloma cells., [RefSeq, PubMed]; LINC01857 promotes the proliferation, migration, and invasion of gastric cancer cells via regulating miR-4731-5p/HOXC6., [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]; The Effects of Differentially-Expressed Homeobox Family Genes on the Prognosis and HOXC6 on Immune Microenvironment Orchestration in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons. [provided by RefSeq, Jul 2008]., [RefSeq]; [Mechanism of HOXC6 promoting the progression of prostate cancer by activating the SFRP1/Wnt/beta-catenin signaling pathway]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "prognostic", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RBV2;Q6DK09", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;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", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P09630-1", "record_type": "protein", "filter_code": "0001000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DP03-1", "uniprot_id": [ { "id": "HVC05_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DP03", "type": "external" } ], "mass": 12947.0, "length": 117, "protein_name": "Immunoglobulin heavy variable 3-30-5", "gene_name": "IGHV3-30-5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV3-30-5", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 3-30-5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11340299;17576170;20176268;22158414;23541343;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO: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": 0.7, "record_id": "P0DP03-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DP04-1", "uniprot_id": [ { "id": "HV43D_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DP04", "type": "external" } ], "mass": 13017.0, "length": 118, "protein_name": "Immunoglobulin heavy variable 3-43D", "gene_name": "IGHV3-43D", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV3-43D", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 3-43D", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11340299;17576170;20176268;22158414;23541343;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO: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": 0.7, "record_id": "P0DP04-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DP06-1", "uniprot_id": [ { "id": "HVD34_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DP06", "type": "external" } ], "mass": 13156.0, "length": 118, "protein_name": "Immunoglobulin heavy variable 4-30-4", "gene_name": "IGHV4-30-4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV4-30-4", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 4-30-4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11340299;1348029;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO: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": 0.7, "record_id": "P0DP06-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14651-1", "uniprot_id": [ { "id": "HXB3_HUMAN", "url": "https://www.uniprot.org/uniprot/P14651", "type": "external" } ], "mass": 44340.0, "length": 431, "protein_name": "Homeobox protein Hox-B3", "gene_name": "HOXB3", "organism": "Human", "refseq_name": "homeobox protein Hox-B3 isoform 2", "refseq_ac": [ { "id": "NP_001317251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317251", "type": "external" } ], "gene_names_uniprotkb": "HOXB3; HOX2G", "gene_names_refseq": "HOX2G; HOX2; HOXB3; Hox-2.7", "protein_names_uniprotkb": "Homeobox protein Hox-B3; Homeobox protein Hox-2.7; Homeobox protein Hox-2G", "protein_names_refseq": "homeo box 2G; homeobox protein Hox-2.7; homeobox protein Hox-2G; homeobox protein Hox-B3 isoform 2; homeobox protein Hox-B3", "tax_id": 9606, "disease": "", "pathway": " (hsa:3213); (R-HSA-5617472)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10777502;11237011;15867264;16079151;16549775;17185360;17428788;1756725;17660710;17713478;17761849;17851529;18781158;19115252;19232136;19747919;1975088;19782034;19854132;20085832;22299025;22569366;22705304;22879880;23219899;23534758;23630040;24174538;24312487;24586203;25101834;25135475;2570724;2574852;2576652;25913784;26154972;28832583;29391424;32387766;32748508;33352356;33936100;35127344;36973255;38254070;7488013;7501971;7831296;7906964;7908827;8674428;8759021;9218805;9272954;9482740", "class_list": "", "function": "CSF levels of HoxB3 and YKL-40 may predict conversion from clinically isolated syndrome to relapsing remitting multiple sclerosis., [RefSeq, PubMed]; Extracellular Vesicle-Encapsulated MicroRNA-375 from Bone Marrow-Derived Mesenchymal Stem Cells Inhibits Hepatocellular Carcinoma Progression through Regulating HOXB3-Mediated Wnt/beta-Catenin Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; HOXB3 drives WNT-activation associated progression in castration-resistant prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Levels of serum Hoxb3 and sFlt-1 in pre-eclamptic patients and their effects on pregnancy outcomes., [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, UniProtKB, UniProtKB]; Sequential gene expression analysis of myelodysplastic syndrome transformation identifies HOXB3 and HOXB7 as the novel targets for mesenchymal cells in disease. Publication Status: Online-Only, [RefSeq, PubMed]; 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 development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [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": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 20, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K567;B7Z5N8;B7Z5P8;B7ZAD0;D3DTV3;O95615;P17484", "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:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0001525 angiogenesis;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0009952 anterior/posterior pattern specification", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P14651-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18510-1", "uniprot_id": [ { "id": "IL1RA_HUMAN", "url": "https://www.uniprot.org/uniprot/P18510", "type": "external" } ], "mass": 20055.0, "length": 177, "protein_name": "Interleukin-1 receptor antagonist protein", "gene_name": "IL1RN", "organism": "Human", "refseq_name": "interleukin-1 receptor antagonist protein isoform 3", "refseq_ac": [ { "id": "NP_000568", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000568", "type": "external" } ], "gene_names_uniprotkb": "IL1RN; IL1F3; IL1RA", "gene_names_refseq": "CRMO2; DIRA; ICIL-1RA; IL-1RN; IL-1ra3; IL-1ra; IL1F3; IL1RA; IL1RN; IRAP; MVCD4", "protein_names_uniprotkb": "Interleukin-1 receptor antagonist protein; ICIL-1RA; IL-1RN; IL-1ra; IL1 inhibitor; IRAP", "protein_names_refseq": "IL1 inhibitor; interleukin-1 receptor antagonist protein isoform 3; interleukin-1 receptor antagonist protein; intracellular IL-1 receptor antagonist type II; intracellular interleukin-1 receptor antagonist (icIL-1ra); type II interleukin-1 receptor antagonist", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); Muckle-Wells syndrome (Disease Ontology:DOID:0050854); stroke (Disease Ontology:DOID:0051061); interleukin-1 receptor antagonist deficiency (Disease Ontology:DOID:0061225); herpes simplex virus keratitis (Disease Ontology:DOID:0080158); lupus nephritis (Disease Ontology:DOID:0080162); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); calcium oxalate nephrolithiasis (Disease Ontology:DOID:0080652); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); Graves ophthalmopathy (Disease Ontology:DOID:0081120); graft-versus-host disease (Disease Ontology:DOID:0081267); keratoconus (Disease Ontology:DOID:10126); dry eye syndrome (Disease Ontology:DOID:10140); pleurisy (Disease Ontology:DOID:10247); silicosis (Disease Ontology:DOID:10325); common cold (Disease Ontology:DOID:10459); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); pleural tuberculosis (Disease Ontology:DOID:106); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); IgA vasculitis (Disease Ontology:DOID:11123); allergic conjunctivitis (Disease Ontology:DOID:11204); corneal neovascularization (Disease Ontology:DOID:11382); adult respiratory distress syndrome (Disease Ontology:DOID:11394); pyelonephritis (Disease Ontology:DOID:11400); sciatic neuropathy (Disease Ontology:DOID:11446); osteoporosis (Disease Ontology:DOID:11476); listeriosis (Disease Ontology:DOID:11573); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); cicatricial pemphigoid (Disease Ontology:DOID:11656); diabetic angiopathy (Disease Ontology:DOID:11713); nephrotic syndrome (Disease Ontology:DOID:1184); morbid obesity (Disease Ontology:DOID:11981); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); Sjogren's syndrome (Disease Ontology:DOID:12894); crescentic glomerulonephritis (Disease Ontology:DOID:13139); Behcet's disease (Disease Ontology:DOID:13241); pulmonary sarcoidosis (Disease Ontology:DOID:13406); anterior uveitis (Disease Ontology:DOID:1407); toxic shock syndrome (Disease Ontology:DOID:14115); cystic fibrosis (Disease Ontology:DOID:1485); pleural disease (Disease Ontology:DOID:1532); depressive disorder (Disease Ontology:DOID:1596); vascular disease (Disease Ontology:DOID:178); melanoma (Disease Ontology:DOID:1909); transient cerebral ischemia (Disease Ontology:DOID:224); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); hairy cell leukemia (Disease Ontology:DOID:285); glomerulonephritis (Disease Ontology:DOID:2921); bronchiolitis (Disease Ontology:DOID:2942); pulmonary tuberculosis (Disease Ontology:DOID:2957); IgA glomerulonephritis (Disease Ontology:DOID:2986); acute kidney failure (Disease Ontology:DOID:3021); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary fibrosis (Disease Ontology:DOID:3770); bronchus carcinoma (Disease Ontology:DOID:3904); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hyperglycemia (Disease Ontology:DOID:4195); Schnitzler syndrome (Disease Ontology:DOID:4371); renal cell carcinoma (Disease Ontology:DOID:4450); rhinitis (Disease Ontology:DOID:4483); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); ureteral obstruction (Disease Ontology:DOID:5199); pneumonia (Disease Ontology:DOID:552); proteinuria (Disease Ontology:DOID:576); fibromyalgia (Disease Ontology:DOID:631); myositis (Disease Ontology:DOID:633); pulmonary hypertension (Disease Ontology:DOID:6432); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); periodontitis (Disease Ontology:DOID:824); chronic myeloid leukemia (Disease Ontology:DOID:8552); ulcerative colitis (Disease Ontology:DOID:8577); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); learning disability (Disease Ontology:DOID:8927); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary eosinophilia (Disease Ontology:DOID:9498); multiple myeloma (Disease Ontology:DOID:9538); encephalitis (Disease Ontology:DOID:9588); type 1 diabetes mellitus (Disease Ontology:DOID:9744); alopecia areata (Disease Ontology:DOID:986); dacryocystitis (Disease Ontology:DOID:9938); obesity (Disease Ontology:DOID:9970); microvascular complications of diabetes, susceptibility to, 4 (MONDO:MONDO:0012966)", "pathway": " (hsa:3557); (R-HSA-6783783); (R-HSA-9020702)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10075690;10092818;10415057;10433356;10514433;10702308;10854325;10882101;10918611;11094434;11237011;11960013;11991722;12496252;12538665;12554859;12626585;12791687;12832402;12860405;1385987;1460289;14625308;1534997;15917247;15919823;16335952;16982608;17135271;17141195;17507369;17675297;17890055;17997719;18070982;18180283;1827201;1828071;1828896;1833184;18438411;18987736;19264966;1940369;1940799;19494218;19903815;20145033;2137200;2137201;2139180;2143761;2147937;24743777;26375851;26992070;27466718;29331515;29391424;2946959;29557506;32157095;32384874;32938616;32983136;35051231;35580925;36284347;37803493;38139317;38203822;38742942;38875998;7510216;7512027;7512451;7516408;7543512;7593617;7594602;7628694;7629520;7684412;7687627;7775431;7867645;7902377;7989776;8045306;8063757;8102388;8120391;8163946;8175703;8186324;8301137;8327496;8332913;8537680;8599092;8662928;8734788;8742066;8786086;8837778;8871669;8897595;8910398;8921438;8946277;8992991;9013939;9062194;9312047;9346484;9354687;9371760;9430229;9449724;9514884;9550426;9794440;9836587;9859996;9918218;9990852;9990853", "class_list": "", "function": "Anti-inflammatory antagonist of interleukin-1 family of proinflammatory cytokines such as interleukin-1beta/IL1B and interleukin-1alpha/IL1A. Protects from immune dysregulation and uncontrolled systemic inflammation triggered by IL1 for a range of innate stimulatory agents such as pathogens., [UniProtKB, PubMed, UniProtKB]; Association of MIF-173G/C, IL-4 VNTR, and IL-1RA VNTR variants with FMF-related amyloidosis in a Turkish cohort., [RefSeq, PubMed]; Elevated IL-1beta and Comparable IL-1 Receptor Antagonist Levels Are Characteristic Features of L-PRP in Female College Athletes Compared to Male Professional Soccer Players. Publication Status: Online-Only, [RefSeq, PubMed]; Exosome microRNA-125a-5p derived from epithelium promotes M1 macrophage polarization by targeting IL1RN in chronic obstructive pulmonary disease., [RefSeq, PubMed]; IL27 and IL1RN are causally associated with acute pancreatitis: a Mendelian randomization study., [RefSeq, PubMed]; The Influence of Genetic Polymorphisms on the Expression of Interleukin-1beta, Prostaglandin E2 and Tumor Necrosis Factor Alpha in Peri-Implant Crevicular Fluid: A Cross-Sectional Study. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses, particularly in the acute phase of infection and inflammation. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 11, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 2, "disease_count": 93, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K4G1;Q14628;Q53SC2;Q7RTZ4;Q96GD6;Q9UPC0", "ec_number_list": [], "go_molecular_function": "GO:0005152 interleukin-1 receptor antagonist activity;GO:0005150 interleukin-1, type I receptor binding;GO:0045352 interleukin-1 type I receptor antagonist activity;GO:0045353 interleukin-1 type II receptor antagonist activity;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:2000660 negative regulation of interleukin-1-mediated signaling pathway;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0006953 acute-phase response;GO:0050728 negative regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "P18510-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24394-1", "uniprot_id": [ { "id": "IL4RA_HUMAN", "url": "https://www.uniprot.org/uniprot/P24394", "type": "external" } ], "mass": 89658.0, "length": 825, "protein_name": "Interleukin-4 receptor subunit alpha", "gene_name": "IL4R", "organism": "Human", "refseq_name": "interleukin-4 receptor subunit alpha isoform a precursor", "refseq_ac": [ { "id": "NP_000409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000409", "type": "external" } ], "gene_names_uniprotkb": "IL4R; 582J2.1; IL4RA", "gene_names_refseq": "CD124; IL-4RA; IL4RA; IL4R", "protein_names_uniprotkb": "Interleukin-4 receptor subunit alpha; IL-4 receptor subunit alpha; IL-4-binding protein; IL-4R subunit alpha; IL-4R-alpha; IL-4RA; IL4-BP", "protein_names_refseq": "IL-4 receptor subunit alpha; interleukin 13 receptor; interleukin-4 receptor alpha chain; interleukin-4 receptor subunit alpha isoform a precursor; interleukin-4 receptor subunit alpha", "tax_id": 9606, "disease": "primary progressive multiple sclerosis (Disease Ontology:DOID:0050784); stroke (Disease Ontology:DOID:0051061); allergic conjunctivitis (Disease Ontology:DOID:11204); esophagitis (Disease Ontology:DOID:11963); pancreatic cancer (Disease Ontology:DOID:1793); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); interstitial lung disease (Disease Ontology:DOID:3082); autosomal dominant hyper-IgE syndrome 1 with recurrent infections (Disease Ontology:DOID:3261); atopic dermatitis (Disease Ontology:DOID:3310); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); renal cell carcinoma (Disease Ontology:DOID:4450); rhinitis (Disease Ontology:DOID:4483); cholangiocarcinoma (Disease Ontology:DOID:4947); myocardial infarction (Disease Ontology:DOID:5844); acne (Disease Ontology:DOID:6543); rheumatoid arthritis (Disease Ontology:DOID:7148); osteoarthritis (Disease Ontology:DOID:8398); multiple myeloma (Disease Ontology:DOID:9538); renal tuberculosis (Disease Ontology:DOID:9733)", "pathway": " (hsa:3566); (R-HSA-6785807); (R-HSA-9976102)", "pathway_count": 3, "publication_count": 178, "publication_id_list": "10.1101/2023.09.13.557529;10023775;10201973;10219247;10233717;10341317;10369418;10390422;10510379;10586089;10590262;10677312;10809862;10867011;11058569;11084045;11104795;11120780;11237011;11278437;11278729;11285129;11356008;11404481;11463377;11513543;11714803;11786020;11960372;12223527;12242343;12459556;12600988;12832402;14634100;14657871;14712222;15116091;15261459;15584925;15805299;15869882;15950906;16007214;16024651;16048438;16107692;16205632;16236134;16397018;16451196;16510571;16540365;16606674;16867043;16917945;17030238;17427945;17458857;17572495;18243101;18292551;18353781;18447642;18644974;19124156;19185846;19397496;19515749;20493732;21102457;21252155;21689689;21730069;21937440;21994466;22046235;22170601;22205702;22383755;22693070;2278997;22851691;2307934;23086340;23124025;23172665;23328677;23455323;23464436;23481700;23555662;23967200;24097101;24190977;24743777;25170298;25234944;25502872;25548167;25576301;25645385;28228285;28467828;28832583;29242379;29314611;29317506;29557506;29632711;29671580;29769354;29789417;30315122;30573663;30626607;31154438;31530632;31844290;31848261;32350084;32387766;32502341;32938616;32983136;33141586;33298915;33691108;33912179;33936100;33968037;34087483;34357683;34405274;34433824;34509645;35051231;35154160;35580925;36010968;36215666;36241641;37565285;37933466;38426866;38731867;7510216;7512451;7529288;7538655;7721895;7775445;7795521;7796300;7898939;7907877;8085155;8124718;8602263;8621622;8624803;8663118;8668165;8797861;8804422;8816495;9013879;9070874;9392697;9545332;9620765;9651359;9670964;9697832;9723655;9736340;9822675;9874564", "class_list": "", "function": "Association of IL4RA and IL-8 polymorphism in predicting susceptibility to tuberculosis. Publication Status: Online-Only, [RefSeq, PubMed]; Global IL4Ralpha blockade exacerbates heart failure after an ischemic event in mice and humans., [RefSeq, PubMed]; Receptor for both interleukin 4 and interleukin 13 (PubMed:17030238). Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation. The IL4/IL13 responses are involved in regulating IgE production and, chemokine and mucus production at sites of allergic inflammation. In certain cell types, can signal through activation of insulin receptor substrates, IRS1/IRS2., [UniProtKB, PubMed, PubMed]; Results show sequence variations as a possible way of altering alternative splicing selection of IL4R in vivo., [RefSeq, PubMed]; Soluble IL4R (sIL4R) inhibits IL4-mediated cell proliferation and IL5 up-regulation by T-cells., [UniProtKB, PubMed]; Th2 cytokine signaling through IL-4Ralpha increases eotaxin-3 secretion and tension in human esophageal smooth muscle., [RefSeq, PubMed]; This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]., [RefSeq]; Type II Interleukin-4 Receptor Activation in Basal Breast Cancer Cells Promotes Tumor Progression via Metabolic and Epigenetic Modulation. 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": 5, "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": 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": 5, "reported_mutagensis": 34, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 8686, "biomarker_type": "", "glycan_count": 4, "disease_count": 21, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4E076;B9EKU8;H3BSY5;Q96P01;Q9H181;Q9H182;Q9H183;Q9H184;Q9H185;Q9H186;Q9H187;Q9H188", "ec_number_list": [], "go_molecular_function": "GO:0004913 interleukin-4 receptor activity;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:0016020 membrane", "go_biological_process": "GO:0035771 interleukin-4-mediated signaling pathway;GO:0043032 positive regulation of macrophage activation;GO:0006955 immune response;GO:0007165 signal transduction;GO:0032722 positive regulation of chemokine production", "synthesized_glycan_count": 0, "hit_score": 18.8, "record_id": "P24394-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26951-1", "uniprot_id": [ { "id": "IL3RA_HUMAN", "url": "https://www.uniprot.org/uniprot/P26951", "type": "external" } ], "mass": 43330.0, "length": 378, "protein_name": "Interleukin-3 receptor subunit alpha", "gene_name": "IL3RA", "organism": "Human", "refseq_name": "interleukin-3 receptor subunit alpha isoform 2 precursor", "refseq_ac": [ { "id": "NP_001254642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254642", "type": "external" } ], "gene_names_uniprotkb": "IL3RA; IL3R", "gene_names_refseq": "CD123; IL-3R-alpha; IL3RAY; IL3RA; IL3RX; IL3RY; IL3R; hIL-3Ra", "protein_names_uniprotkb": "Interleukin-3 receptor subunit alpha; IL-3 receptor subunit alpha; IL-3R subunit alpha; IL-3R-alpha; IL-3RA", "protein_names_refseq": "CD123 antigen; IL-3 receptor subunit alpha; IL-3R subunit alpha; interleukin 3 receptor, alpha (low affinity); interleukin-3 receptor subunit alpha isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:3563); (R-HSA-512988); (R-HSA-5673001); (R-HSA-912526)", "pathway_count": 4, "publication_count": 137, "publication_id_list": "10207047;10455108;10477686;10477722;10508167;10527461;10570274;10869344;10949031;10982827;11027663;11090077;11136978;11237011;11313946;11328862;11340297;11546808;11702783;12032311;12094235;12121613;1396555;1400495;14506247;1465135;14707138;15356145;1545823;15546878;16627759;16684964;1702217;1716764;17998941;1833064;1833065;18692472;18775330;1898771;19109256;19279408;19920141;20478380;2065657;21102635;21372320;21654843;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;23719902;24190977;24714562;24897931;24937142;25043189;25219551;25502872;2555171;25781681;25880248;26085527;2681215;27452731;28218747;28467828;28778966;28832583;28834231;29242379;29374162;29437277;29508533;29557506;29786170;30315122;30410026;30573663;31135801;31530632;31844290;32350084;32357974;32387766;32983136;33043033;33298915;33912179;33936100;34357683;34932366;35154160;36769040;37712633;37949031;38287771;38702781;39456698;6148751;7513165;7651724;7809086;7887951;7935463;7972015;8007942;8052307;8084588;8119729;8294403;8394845;8483502;8493579;8647804;8665852;8710374;8939933;8947042;9030599;9099679;9108392;9111318;9162089;9422786;9604935;9685210;9766809;9885561;9927426", "class_list": "", "function": "CD123 a Therapeutic Target for Acute Myeloid Leukemia and Blastic Plasmocytoid Dendritic Neoplasm. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Cell surface receptor for IL3 expressed on hematopoietic progenitor cells, monocytes and B-lymphocytes that controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells (PubMed:10527461). Ligand stimulation rapidly induces hetrodimerization with IL3RB, phosphorylation and enzyme activity of effector proteins such as JAK2 and PI3K that play a role in signaling cell proliferation and differentiation. Activation of JAK2 leads to STAT5-mediated transcriptional program (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; High placental expression of FLT1, LEP, PHYHIP and IL3RA - In persons of African ancestry with severe preeclampsia., [RefSeq, PubMed]; Oral lupus erythematosus: Immunohistochemical evaluation of CD1a, CD21, CD123, and langerin expression in dendritic cells., [RefSeq, PubMed]; Role of IL3RA in a Family with Lumbar Spinal Stenosis. Publication Status: Online-Only, [RefSeq, PubMed]; Tandem bispecific CD123/CLL-1 CAR-T cells exhibit specific cytolytic effector functions against human acute myeloid leukaemia., [RefSeq, PubMed]; The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 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": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K3F3;B9VI81;Q5HYQ7;Q5HYQ8;Q9UEH7", "ec_number_list": [], "go_molecular_function": "GO:0004912 interleukin-3 receptor activity;GO:0019955 cytokine binding;GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0009897 external side of plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0038156 interleukin-3-mediated signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0019221 cytokine-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "P26951-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31267-1", "uniprot_id": [ { "id": "HXA6_HUMAN", "url": "https://www.uniprot.org/uniprot/P31267", "type": "external" } ], "mass": 26339.0, "length": 233, "protein_name": "Homeobox protein Hox-A6", "gene_name": "HOXA6", "organism": "Human", "refseq_name": "homeobox protein Hox-A6", "refseq_ac": [ { "id": "NP_076919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076919", "type": "external" } ], "gene_names_uniprotkb": "HOXA6; HOX1B", "gene_names_refseq": "HOX1.2; HOX1B; HOX1; HOXA6", "protein_names_uniprotkb": "Homeobox protein Hox-A6; Homeobox protein Hox-1B", "protein_names_refseq": "homeo box 1B; homeo box A6; homeobox protein HOXA6; homeobox protein Hox-1B; homeobox protein Hox-A6", "tax_id": 9606, "disease": "leukemia (Disease Ontology:DOID:1240)", "pathway": " (hsa:3203); (R-HSA-9830364)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "2576652;29620285;31081053;33141586;33535170;35051231;35349479", "class_list": "", "function": "Coexpression of HOXA6 and PBX2 promotes metastasis in gastric cancer., [RefSeq, PubMed]; In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008]., [RefSeq]; Next-generation sequencing identifies HOXA6 as a novel oncogenic gene in low grade glioma., [RefSeq, PubMed]; Results demonstrated thatHOXA6 is up-regulated in colorectal cancer (CRC) and promoted cell proliferation, migration and invasion, but inhibited apoptosis, whereas the downregulated expression of HOXA6 produced the opposite effects. HOXA6 regulated apoptosis through the Bcl-2 signaling pathway, and regulated migration and invasion through the EMT process., [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]; Study revealed that the mRNA and protein expression levels of HOXA6 were suppressed in clear cell renal cell carcinoma (ccRCC) tissues. Its overexpression suppresses cell proliferation and promotes apoptosis, which may occur via inhibition of the PI3K/Akt/ERK cascade., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A4D192;Q2M3G3;Q9UPM0", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0009952 anterior/posterior pattern specification", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P31267-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35475-1", "uniprot_id": [ { "id": "IDUA_HUMAN", "url": "https://www.uniprot.org/uniprot/P35475", "type": "external" } ], "mass": 72670.0, "length": 653, "protein_name": "Alpha-L-iduronidase", "gene_name": "IDUA", "organism": "Human", "refseq_name": "alpha-L-iduronidase isoform a precursor", "refseq_ac": [ { "id": "NP_000194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000194", "type": "external" } ], "gene_names_uniprotkb": "IDUA", "gene_names_refseq": "IDA; IDUA; MPS1; MPSI", "protein_names_uniprotkb": "Alpha-L-iduronidase; 3.2.1.76", "protein_names_refseq": "alpha-L-iduronidase isoform a precursor; iduronidase alpha-L-; mucopolysaccharidosis type I", "tax_id": 9606, "disease": "Scheie syndrome (Disease Ontology:DOID:0060222); mucopolysaccharidosis Ih/s (Disease Ontology:DOID:0111389); mucopolysaccharidosis Ih (Disease Ontology:DOID:0111390); otitis media (Disease Ontology:DOID:10754); gastric ulcer (Disease Ontology:DOID:10808); mucopolysaccharidosis (Disease Ontology:DOID:12798); mucopolysaccharidosis I (Disease Ontology:DOID:12802)", "pathway": " (hsa:3425); (R-HSA-2024096); (R-HSA-2024101); (R-HSA-2206302); (R-HSA-9953038)", "pathway_count": 5, "publication_count": 99, "publication_id_list": "10.1101/2023.09.13.557529;10339581;10446189;10466419;10735634;10738517;11027606;11237011;11568288;11735025;12213822;12359140;12441129;12559846;12888274;12927802;1301196;1301941;1362562;1505961;15300847;15521993;15647514;16151907;16960811;17033958;1907800;19159218;19224584;1928092;19396826;1946389;19889881;20560209;20560210;20576607;20650889;2122463;21394825;23959878;24036510;24190977;25256405;25505266;25576301;26375851;27920218;29557506;2971395;29741879;31194252;3134052;31611695;31844290;32125861;32157095;32161166;32350084;32387766;32983136;33298915;33389473;33968037;33981976;34087483;34189746;3468507;34783964;35051231;35251023;35580925;36241641;36951468;37074911;4221470;5822067;6821579;738706;7493035;7550232;7550242;7628016;7951228;7998955;8019563;8213840;8242073;8328452;8401515;8477267;8554071;8664897;8680403;8776591;9223416;9278435;9285796;9391892;9521684", "class_list": "glycogene;glycosylhydrolase", "function": "A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings., [RefSeq, PubMed]; Lysosomal hydrolase responsible for the degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate., [UniProtKB, PubMed]; Mucopolysaccharidoses type I gene therapy. Review article, [RefSeq, PubMed]; This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]., [RefSeq]; Why SNP rs3755955 is associated with human bone mineral density? A molecular and cellular study in bone cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 6, "mined_n_glycosites": 6, "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": 7, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1295, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 17, "disease_count": 7, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B3KWK6", "ec_number_list": [ { "id": "3.2.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.76", "type": "external" } ], "go_molecular_function": "GO:0003940 L-iduronidase activity;GO:0005102 signaling receptor binding;GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0043202 lysosomal lumen", "go_biological_process": "GO:0005984 disaccharide metabolic process;GO:0030209 dermatan sulfate proteoglycan catabolic process;GO:0006027 glycosaminoglycan catabolic process;GO:0030200 heparan sulfate proteoglycan catabolic process;GO:0030211 heparin proteoglycan catabolic process", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P35475-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100000000.110.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47928-1", "uniprot_id": [ { "id": "ID4_HUMAN", "url": "https://www.uniprot.org/uniprot/P47928", "type": "external" } ], "mass": 16622.0, "length": 161, "protein_name": "DNA-binding protein inhibitor ID-4", "gene_name": "ID4", "organism": "Human", "refseq_name": "DNA-binding protein inhibitor ID-4", "refseq_ac": [ { "id": "NP_001537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001537", "type": "external" } ], "gene_names_uniprotkb": "ID4; BHLHB27", "gene_names_refseq": "ID4; IDB4; bHLHb27", "protein_names_uniprotkb": "DNA-binding protein inhibitor ID-4; Class B basic helix-loop-helix protein 27; Inhibitor of DNA binding 4; Inhibitor of differentiation 4; bHLHb27", "protein_names_refseq": "DNA-binding protein inhibitor ID-4; class B basic helix-loop-helix protein 27; inhibitor of DNA binding 4, HLH protein; inhibitor of DNA binding 4, dominant negative helix-loop-helix protein; inhibitor of differentiation 4", "tax_id": 9606, "disease": "osteoporosis (Disease Ontology:DOID:11476)", "pathway": " (hsa:3400); (R-HSA-9031628); (R-HSA-9830364)", "pathway_count": 3, "publication_count": 154, "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;16287845;16339507;16407550;16484497;16574654;16732277;17088210;17088211;17088212;17632064;17898216;18056528;18088355;18160048;1833716;18456662;18524893;1861162;19061646;19116276;19193899;19194657;19926875;2017159;2040600;20506119;2052361;2072895;21057636;2109185;21326363;21486943;21621608;22053691;22065583;22302795;2237820;23301498;24060757;25248477;25569790;25645385;25748042;26018600;2676516;26992070;27041596;27128622;27220739;27600516;28076410;28275114;28286024;28834231;29093164;29557506;29559111;29786170;30429286;30833945;31154438;3127059;31844290;32157095;32387766;32488085;33691108;33968037;34171305;34509645;34723712;35051231;35094293;35580925;35656024;35908351;3672127;37938771;38188675;7551568;7592934;7595538;7608156;7624335;7665172;7777577;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8248782;8413279;8483478;8576248;8583621;8668170;8756618;8846918;8918830;9032251;9084409;9343422;9390517;9418898;9622090;9722618;9770464;9774344;9808461;9822744;9858769;9872455", "class_list": "", "function": "CDC42 as an epigenetic regulator of ID4 in triple-negative breast tumors., [RefSeq, PubMed]; ELK3-ID4 axis governs the metastatic features of triple negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-9-5p Promotes Lung Adenocarcinoma Cell Proliferation, Migration and Invasion by Targeting ID4., [RefSeq, PubMed]; Osteoglycin (OGN) promotes tumorigenesis of pancreatic cancer cell via targeting ID4., [RefSeq, PubMed]; This gene encodes a member of the inhibitor of DNA binding (ID) protein family. The encoded protein lacks DNA binding ability, and instead regulates gene expression through binding to and inhibiting basic helix-loop-helix transcription factors. This protein has been implicated in the regulation of diverse cellular processes that play a role in development and tumorigenesis. [provided by RefSeq, Aug 2017]., [RefSeq]; 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 (By similarity)., [UniProtKB]; Upregulated circTMEM59 Inhibits Cell Growth and Metastasis by miR-668-3p/ID4 Axis 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q13005", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0003714 transcription corepressor activity;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0140416 transcription regulator inhibitor activity", "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:0045892 negative regulation of DNA-templated transcription;GO:0007623 circadian rhythm;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "P47928-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51553-1", "uniprot_id": [ { "id": "IDH3G_HUMAN", "url": "https://www.uniprot.org/uniprot/P51553", "type": "external" } ], "mass": 42794.0, "length": 393, "protein_name": "Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial", "gene_name": "IDH3G; PDZD4", "organism": "Human", "refseq_name": "isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial isoform a precursor", "refseq_ac": [ { "id": "NP_004126", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004126", "type": "external" } ], "gene_names_uniprotkb": "IDH3G; PDZD4", "gene_names_refseq": "H-IDHG; IDH3G; RP99", "protein_names_uniprotkb": "Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial; Isocitric dehydrogenase subunit gamma; NAD(+)-specific ICDH subunit gamma", "protein_names_refseq": "IDH-gamma; NAD (H)-specific isocitrate dehydrogenase gamma subunit; NAD(+)-specific ICDH subunit gamma; NAD+-specific ICDH; isocitrate dehydrogenase (NAD(+)) 3 gamma; isocitrate dehydrogenase 3 (NAD(+)) gamma; isocitrate dehydrogenase 3 (NAD+) gamma; isocitrate dehydrogenase 3 gamma; isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial isoform a precursor; isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial; isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, gamma subunit; isocitric dehydrogenase subunit gamma", "tax_id": 9606, "disease": "early infantile epileptic encephalopathy (Disease Ontology:DOID:0050709); retinitis pigmentosa 99 (MONDO:MONDO:0978291)", "pathway": " (hsa:3421); (R-HSA-1268020); (R-HSA-71403)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "1052766;10601238;10673423;10727444;11237011;11256614;11278619;12207025;13181903;14249115;14555658;14726512;14832224;14946179;15234968;15254020;15644312;15652751;15683237;15877282;15987702;16143825;16185709;16737955;16740313;16849325;17182618;17432878;17510655;17668387;18174896;18678864;18806796;18914071;19409522;19453276;1946331;19767391;19962426;2005110;20068231;20435888;20593814;20847235;21750375;23041349;23564345;23597483;23747254;23811401;25315652;25564869;25576301;25645385;25880248;26697887;26992070;27189937;27374498;27600516;28098230;28139779;28228285;28832583;28834231;28887308;28904123;29242379;29393594;29493099;29557506;29632046;30192525;30315122;30429286;30451992;30761759;30844107;31217245;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32897882;32938616;32983136;33058874;33141586;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34185709;34509645;34561969;34932366;35051231;35366151;35580925;36010968;36139014;36241641;36284347;36420423;36581221;38665916;40119724;40596516;40914422;8200987;8616157;9286695;9765290;9765291;9792106;9792662;9809442", "class_list": "", "function": "Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the gamma subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. This gene is a candidate gene for periventricular heterotopia. Several alternatively spliced transcript variants of this gene have been described, but only some of their full length natures have been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Regulatory subunit which plays a role in the allosteric regulation of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "E9PDD5;Q9BUU5", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0051287 NAD binding;GO:0004449 isocitrate dehydrogenase (NAD+) activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0001917 photoreceptor inner segment;GO:0045242 isocitrate dehydrogenase complex (NAD+)", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006102 isocitrate metabolic process;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P51553-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P83110-1", "uniprot_id": [ { "id": "HTRA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P83110", "type": "external" } ], "mass": 48608.0, "length": 453, "protein_name": "Serine protease HTRA3", "gene_name": "HTRA3", "organism": "Human", "refseq_name": "serine protease HTRA3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001284488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284488", "type": "external" } ], "gene_names_uniprotkb": "HTRA3; PRSP", "gene_names_refseq": "HTRA3; Prsp; Tasp", "protein_names_uniprotkb": "Serine protease HTRA3; 3.4.21.-; High-temperature requirement factor A3; Pregnancy-related serine protease", "protein_names_refseq": "high-temperature requirement factor A3; pregnancy-related serine protease; probable serine protease HTRA3; serine protease HTRA3 isoform 2 precursor; serine protease HTRA3", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:94031)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "12513693;16251496;16650464;17962403;19424634;21321049;22229724;26110759;29557506;29786170;31848261;32161166;32488085;33592498;34171305;35035835;35051231;35869629;36284347;37606164;37842043", "class_list": "", "function": "A Pan-Cancer Analysis to Provide Insight into the Immunological Role and Prognostic Value of HTRA3., [RefSeq, PubMed]; HtrA3: a promising prognostic biomarker and therapeutic target for head and neck squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Mmu-lncRNA 121686/hsa-lncRNA 520657 induced by METTL3 drive the progression of AKI by targeting miR-328-5p/HtrA3 signaling axis., [RefSeq, PubMed]; RT-PCR analysis showed a significant reduction of HTRA1 and HTRA3 mRNA in endometrial cancer compared to normal endometrium. HTRA1 and HTRA3 protein showed a similar pattern of expression in EC tissue., [RefSeq, PubMed]; Serine protease that cleaves beta-casein/CSN2 as well as several extracellular matrix (ECM) proteoglycans such as decorin/DCN, biglycan/BGN and fibronectin/FN1. Inhibits signaling mediated by TGF-beta family proteins possibly indirectly by degradation of these ECM proteoglycans (By similarity). May act as a tumor suppressor. Negatively regulates, in vitro, trophoblast invasion during placental development and may be involved in the development of the placenta in vivo. May also have a role in ovarian development, granulosa cell differentiation and luteinization (PubMed:21321049, PubMed:22229724)., [UniProtKB, PubMed, PubMed, UniProtKB]; Structural and functional analysis of the PDZ domains of human HtrA1 and HtrA3, [RefSeq, PubMed]; Study on the Correlation between the Levels of HtrA3 and TGF-beta2 in Late Pregnancy and Preeclampsia. Publication Status: Online-Only, [RefSeq, PubMed]; Upregulation of HTRA3 expression in association with placental development was revealed by a significant elevation of this protein in the maternal serum during the first trimester, [RefSeq, PubMed]; We cloned the full-length sequences of two forms (long and short) of human HtrA3 mRNA, located the gene on chromosome 4p16.1, determined its genomic structure and revealed how the two mRNA variants are produced through alternative splicing, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z7A2", "ec_number_list": [], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0042802 identical protein binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis;GO:0030514 negative regulation of BMP signaling pathway;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P83110-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00444-1", "uniprot_id": [ { "id": "HXC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00444", "type": "external" } ], "mass": 24976.0, "length": 222, "protein_name": "Homeobox protein Hox-C5", "gene_name": "HOXC5", "organism": "Human", "refseq_name": "homeobox protein Hox-C5", "refseq_ac": [ { "id": "NP_061826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061826", "type": "external" } ], "gene_names_uniprotkb": "HOXC5; HOX3D", "gene_names_refseq": "CP11; HOX3D; HOX3; HOXC5", "protein_names_uniprotkb": "Homeobox protein Hox-C5; Homeobox protein CP11; Homeobox protein Hox-3D", "protein_names_refseq": "homeo box C5; homeobox protein CP11; homeobox protein Hox-3D; homeobox protein Hox-C5", "tax_id": 9606, "disease": "", "pathway": " (hsa:3222)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "1346761;2576652;28063628;29311615;38253038;38722330", "class_list": "", "function": "Both mir-615-3p and HOXC5 are activated upon differentiation, which constitute a feed-forward loop that coordinates transcriptional and post-transcriptional repression of hTERT during cellular differentiation. Deregulation of HOXC5 and mir-615-3p expression may contribute to the activation of hTERT in human cancers. Publication Status: Online-Only, [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 belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn't encode a protein. The protein-coding transcript variant contains gene-specific exons only. [provided by RefSeq, Jul 2008]., [RefSeq]; USP11 regulates proliferation and apoptosis of human spermatogonial stem cells via HOXC5-mediated canonical WNT/beta-catenin signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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: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:0005654 nucleoplasm;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", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q00444-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14602-1", "uniprot_id": [ { "id": "ID2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14602", "type": "external" } ], "mass": 4055.0, "length": 36, "protein_name": "Putative DNA-binding protein inhibitor ID-2B", "gene_name": "ID2B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ID2B", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative DNA-binding protein inhibitor ID-2B; Inhibitor of DNA binding 2B", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "8224921", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_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": "Q14602-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2TAA2-1", "uniprot_id": [ { "id": "IAH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2TAA2", "type": "external" } ], "mass": 27599.0, "length": 248, "protein_name": "Isoamyl acetate-hydrolyzing esterase 1 homolog", "gene_name": "IAH1", "organism": "Human", "refseq_name": "isoamyl acetate-hydrolyzing esterase 1 homolog isoform a", "refseq_ac": [ { "id": "NP_001034702", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034702", "type": "external" } ], "gene_names_uniprotkb": "IAH1", "gene_names_refseq": "IAH1", "protein_names_uniprotkb": "Isoamyl acetate-hydrolyzing esterase 1 homolog; 3.1.-.-", "protein_names_refseq": "isoamyl acetate-hydrolyzing esterase 1 homolog isoform a; isoamyl acetate-hydrolyzing esterase 1 homolog; testicular tissue protein Li 92", "tax_id": 9606, "disease": "", "pathway": " (hsa:285148)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;23301498;26992070;28834231;29393594;31844290;32157095;33968037;34171305;35051231", "class_list": "", "function": "Probable lipase., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DMV3", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "2.3.1.43", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.43", "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.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.1", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "2.3.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.149", "type": "external" } ], "go_molecular_function": "GO:0016788 hydrolase activity, acting on ester bonds;GO:0042802 identical protein binding;GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity", "go_cellular_component": "", "go_biological_process": "GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q2TAA2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T953-1", "uniprot_id": [ { "id": "IER5L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T953", "type": "external" } ], "mass": 42109.0, "length": 404, "protein_name": "Immediate early response gene 5-like protein", "gene_name": "IER5L", "organism": "Human", "refseq_name": "immediate early response gene 5-like protein", "refseq_ac": [ { "id": "NP_982258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_982258", "type": "external" } ], "gene_names_uniprotkb": "IER5L", "gene_names_refseq": "IER5L; bA247A12.2", "protein_names_uniprotkb": "Immediate early response gene 5-like protein", "protein_names_refseq": "immediate early response gene 5-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:389792)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "24715725;25576301;25880248;25892735;26992070;27600516;27862975;28832583;29242379;29393594;29557506;29786170;30315122;30429286;30484775;30599213;30779550;31154438;31844290;31848261;32157095;32161166;32357974;32897882;32938616;32983136;33123756;33592498;33968037;33981976;34087483;34171305;35051231;35318648;35580925;36010968;36215666;36241641;36284347;38552564;39894887", "class_list": "", "function": "Predictive value of immediate early response 5 like (IER5L) in the prognosis and immune checkpoint blockade therapy of non-small cell lung cancer patients., [RefSeq, PubMed]; The results suggest that IER2, IER5, and IER5L proteins are target protein-specific regulators of PP2A (protein phosphatase 2A) activity and modulate cell proliferation through CDC25A (cell division cycle 25A protein) activity., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "Q6P3E2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q5T953-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6EBC2-1", "uniprot_id": [ { "id": "IL31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6EBC2", "type": "external" } ], "mass": 18205.0, "length": 164, "protein_name": "Interleukin-31", "gene_name": "IL31", "organism": "Human", "refseq_name": "interleukin-31 precursor", "refseq_ac": [ { "id": "NP_001014358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014358", "type": "external" } ], "gene_names_uniprotkb": "IL31", "gene_names_refseq": "IL-31; IL31", "protein_names_uniprotkb": "Interleukin-31; IL-31", "protein_names_refseq": "interleukin-31 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:386653); (R-HSA-6788467)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10586060;10812968;10966616;11834704;11943154;12601009;12707266;12811586;15184896;15450249;15519241;15627637;15925362;16051226;16461142;16461143;17030248;19920145;21715184;2779549;34087483;37888922;38084871;38088514;38301356;39324348;7670098;7738033;7852997;7862649;7957045;8119965;8272873;8390097;8627290;8637716;9238703", "class_list": "", "function": "Findings suggest that IL-31 may participate in the cause of itch sensation and promote scratching behavior in NC/Nga mice with atopic dermatitis., [RefSeq, PubMed]; Functions as a cytokine that binds to IL31RA, a membrane-bound signal-transducing subunit of the IL31 receptor complex (heterodimer composed of OSMR and IL31RA) (PubMed:15184896, PubMed:15627637). Functionally, IL31 signaling via OSMR/IL31RA is particularly important in skin immunity (PubMed:15184896). Mechanistically, ligand binding to IL31RA, induces heterodimerization with OSMR, activating JAK1 and JAK2 (and to a lesser extent TYK2) associated with the intracellular domains of IL31RA and OSMR (PubMed:15627637). These kinases phosphorylate tyrosine residues on IL31RA and OSMR, creating docking sites for STAT1, STAT3, and STAT5B, which are then phosphorylated and activated (PubMed:15184896, PubMed:15627637). In addition, the IL31 receptor complex activates the MAPK pathway (MAPK3/ERK1-MAPK1/ERK2) via recruitment of the adapter protein SHC1 (PubMed:15627637). Enhances myeloid progenitor cell survival in vitro (By similarity). Induces RETNLA and serum amyloid A protein expression in macrophages (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; IL-31 expression is associated with CLA(+) T cells and might contribute to the development of atopic dermatitis-induced skin inflammation and pruritus Erratum:[J Allergy Clin Immunol. 2006 May;117(5):1124. Boguniewcz, Mark [corrected to Boguniewicz, Mark]], [RefSeq, PubMed]; IL31, which is made principally by activated Th2-type T cells, interacts with a heterodimeric receptor consisting of IL31RA (MIM 609510) and OSMR (MIM 601743) that is constitutively expressed on epithelial cells and keratinocytes. IL31 may be involved in the promotion of allergic skin disorders and in regulating other allergic diseases, such as asthma (Dillon et al., 2004 [PubMed 15184896]).[supplied by OMIM, Mar 2008]., [RefSeq]; Increased tissue expression of IL-31 in patients with psoriasis., [RefSeq, PubMed]; Interleukin 31 in vitiligo patients with and without pruritus., [RefSeq, PubMed]; Mechanism underlying pruritus in recessive dystrophic epidermolysis bullosa: Role of interleukin-31 from mast cells and macrophages., [RefSeq, PubMed]; Significantly upregulated in pruritic atopic dermatitis. These findings provide a new link among staphylococcal colonization, subsequent T-cell recruitment/activation, and pruritus induction in patients with atopic dermatitis., [RefSeq, PubMed]; Targeting Interleukin-31 in Prurigo., [RefSeq, PubMed]; The IL-31/CysLT2R axis is associated with itching in patients with allergic rhinitis., [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": 8, "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": "A2RUQ1", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0005126 cytokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0002376 immune system process", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q6EBC2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SU0-1", "uniprot_id": [ { "id": "ILDR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SU0", "type": "external" } ], "mass": 62815.0, "length": 546, "protein_name": "Immunoglobulin-like domain-containing receptor 1", "gene_name": "ILDR1", "organism": "Human", "refseq_name": "immunoglobulin-like domain-containing receptor 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001186728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186728", "type": "external" } ], "gene_names_uniprotkb": "ILDR1", "gene_names_refseq": "DFNB42; ILDR1alpha'; ILDR1alpha; ILDR1beta; ILDR1", "protein_names_uniprotkb": "Immunoglobulin-like domain-containing receptor 1; Angulin-2", "protein_names_refseq": "angulin-2; immunoglobulin-like domain-containing receptor 1 alpha; immunoglobulin-like domain-containing receptor 1 beta; immunoglobulin-like domain-containing receptor 1 isoform 1 precursor", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 42 (Disease Ontology:DOID:0110500)", "pathway": " (hsa:286676)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "15381095;21255762;22365942;23239027;23481700;24715725;25576301;26154972;26768311;27764096;27920218;28228285;28649982;28832583;28887846;28904123;28945813;29224747;29242379;29557506;29786170;29849566;30315122;31844290;33141586;33298915;34211107;35051231;35254053;35595813;36010968;36814109", "class_list": "", "function": "(Microbial infection) Promotes influenza virus infection by inhibiting viral nucleoprotein NP binding to PLSCR1 and thereby PLSCR1-mediated antiviral activity., [UniProtKB, PubMed]; Imputation of SNPs associated with presbycusis through linkage disequilibrium analysis in the ILDR1 gene., [RefSeq, PubMed]; Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42., [RefSeq, PubMed]; Maintains epithelial barrier function by recruiting MARVELD2/tricellulin to tricellular tight junctions (tTJs) (PubMed:23239027). Crucial for normal hearing by maintaining the structural and functional integrity of tTJs, which are critical for the survival of auditory neurosensory HCs. Mediates fatty acids and lipoproteins-stimulated CCK/cholecystokinin secretion in the small intestine. In the inner ear, may regulate alternative pre-mRNA splicing via binding to TRA2A, TRA2B and SRSF1 (By similarity)., [UniProtKB, UniProtKB, PubMed]; The analysis of gene expression was extended to Refractory Anemia (RA) and Refractory Anemia with excess blasts (RAEB) cases revealing ILDR1 overexpression in 36% of RAEB subgroup., [RefSeq, PubMed]; The present study reports a first ILDR1 gene mutation in a consanguineous family with hearing loss in the UAE, and confirms that the whole-exome sequencing approach is a robust tool for the diagnosis of monogenic diseases with high levels of allelic and locus heterogeneity. Publication Status: Online-Only, [RefSeq, PubMed]; The study shows that the novel p.G141R mutation in ILDR1 is the likely genetic cause for the hearing impairment in two unrelated Chinese Han DFNB42 families. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]; This is the first ILDR1 and MYO6 mutations recognized in the southwest Iran. Our data expands the spectrum of mutations in ILDR1 and MYO6 genes. Review article, [RefSeq, PubMed]; We discovered two genome-wide significant SNPs. The first was novel and near ISG20. The second was in TRIOBP, a gene previously associated with prelingual nonsyndromic hearing loss. Motivated by our TRIOBP results, we also looked at exons in known hearing loss genes, and identified two additional SNPs, rs2877561 in ILDR1 and rs9493672 in EYA4 (at a significance threshold adjusted for number of SNPs in those regions). 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZP61;Q7Z578", "ec_number_list": [], "go_molecular_function": "GO:0070506 high-density lipoprotein particle receptor activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0032991 protein-containing complex;GO:0061689 tricellular tight junction", "go_biological_process": "GO:0061833 protein localization to tricellular tight junction;GO:1904274 tricellular tight junction assembly;GO:0043484 regulation of RNA splicing;GO:0070542 response to fatty acid;GO:0010669 epithelial structure maintenance", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q86SU0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWZ1-1", "uniprot_id": [ { "id": "IL1FA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWZ1", "type": "external" } ], "mass": 16943.0, "length": 152, "protein_name": "Interleukin-1 family member 10", "gene_name": "IL1F10", "organism": "Human", "refseq_name": "interleukin-1 family member 10", "refseq_ac": [ { "id": "NP_115945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115945", "type": "external" } ], "gene_names_uniprotkb": "IL1F10; FIL1T; FKSG75; IL1HY2; IL38; PRO20041", "gene_names_refseq": "FIL1-theta; FKSG75; IL-1HY2; IL-38; IL1-theta; IL1F10; IL1HY2", "protein_names_uniprotkb": "Interleukin-1 family member 10; FIL1 theta; Family of interleukin 1-theta; IL-1 theta; IL-1F10; IL-1HY2; IL-38; Interleukin-1 HY2; Interleukin-1 theta; Interleukin-38", "protein_names_refseq": "IL-1 theta; IL-1F10 (canonical form IL-1F10a); family of interleukin 1-theta; interleukin 1 family member 10 (theta); interleukin-1 HY2; interleukin-1 family member 10; interleukin-1 receptor antagonist FKSG75; interleukin-1 receptor antagonist-like FIL1 theta; interleukin-38", "tax_id": 9606, "disease": "", "pathway": " (hsa:84639); (R-HSA-9007892); (R-HSA-9014826)", "pathway_count": 3, "publication_count": 20, "publication_id_list": "10882729;11278614;11466363;11747621;11991722;11991723;12975309;14734551;15123616;20714405;21965679;22315422;25673295;26892022;32272059;38334236;38372219;38683405;38779687;39209451", "class_list": "", "function": "Cytokine with immunomodulatory activity. Alone, does not induce cytokine production, but reduces IL22 and IL17A production by T-cells in response to heat-killed Candida albicans. Reduces IL36G-induced production of IL8 by peripheral blood mononuclear cells. Increases IL6 production by dendritic cells stimulated by bacterial lipopolysaccharides (LPS). Ligand for IL-36R/IL1RL2., [UniProtKB, PubMed]; Emerging functions and therapeutic targets of IL-38 in central nervous system diseases. Review article, [RefSeq, PubMed]; IL-38 promotes the development of prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Neutralizing IL-38 activates gammadelta T cell-dependent antitumor immunity and sensitizes for chemotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; Serum Interleukin-38 and Tumor-Infiltrating Lymphocytes in Primary Brain Tumors. Publication Status: Online-Only, [RefSeq, PubMed]; The 5' untranslated region variant rs3811050 C/T of the interleukin-38 encoding gene is associated with susceptibility to rheumatoid arthritis in Iraqi women. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the interleukin 1 cytokine family. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. This cytokine is thought to participate in a network of interleukin 1 family members to regulate adapted and innate immune responses. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q53SR9;Q56AT8;Q7RTZ5;Q969H5;Q9BYX1", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0005149 interleukin-1 receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0006954 inflammatory response;GO:0006955 immune response;GO:0071222 cellular response to lipopolysaccharide;GO:0019221 cytokine-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8WWZ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96N76-1", "uniprot_id": [ { "id": "HUTU_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96N76", "type": "external" } ], "mass": 74831.0, "length": 676, "protein_name": "Urocanate hydratase", "gene_name": "UROC1", "organism": "Human", "refseq_name": "urocanate hydratase isoform 2", "refseq_ac": [ { "id": "NP_001159446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159446", "type": "external" } ], "gene_names_uniprotkb": "UROC1", "gene_names_refseq": "HMFN0320; UROC1; UROCD", "protein_names_uniprotkb": "Urocanate hydratase; 4.2.1.49; Imidazolonepropionate hydrolase; Urocanase", "protein_names_refseq": "imidazolonepropionate hydrolase; urocanase 1; urocanase domain containing 1; urocanate hydratase isoform 2", "tax_id": 9606, "disease": "urocanase deficiency (Disease Ontology:DOID:0112180)", "pathway": " (hsa:131669); (R-HSA-70921)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10773664;11566133;12072962;12815595;1425659;15221005;15806399;18154359;19304569;20097752;25892735;26001783;31848261;35051231;35289036;37938771;38253038;38305606;7901203;7943261", "class_list": "", "function": "Prognostic and immune roles of UROC1 in human cancers: from mechanism exploration of NAFLD and HCC to pan-cancer analysis., [RefSeq, PubMed]; This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 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": 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": 30, "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": "E9PE13;Q14C64;Q68CJ7", "ec_number_list": [ { "id": "4.2.1.49", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.49", "type": "external" } ], "go_molecular_function": "GO:0016153 urocanate hydratase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0019556 L-histidine catabolic process to glutamate and formamide;GO:0019557 L-histidine catabolic process to glutamate and formate;GO:0006548 L-histidine catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q96N76-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96T92-1", "uniprot_id": [ { "id": "INSM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96T92", "type": "external" } ], "mass": 59491.0, "length": 566, "protein_name": "Insulinoma-associated protein 2", "gene_name": "INSM2", "organism": "Human", "refseq_name": "insulinoma-associated protein 2", "refseq_ac": [ { "id": "NP_115983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115983", "type": "external" } ], "gene_names_uniprotkb": "INSM2; IA6; Nbla106", "gene_names_refseq": "IA-6; IA6; INSM2; mlt1", "protein_names_uniprotkb": "Insulinoma-associated protein 2; Zinc finger protein IA-6", "protein_names_refseq": "insulinoma-associated 2; insulinoma-associated protein 2; insulinoma-associated protein IA-6; zinc finger protein IA-6", "tax_id": 9606, "disease": "", "pathway": " (hsa:84684)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "12880961;20091020;21343251;28254787;29731959;35051231;39894887", "class_list": "", "function": "Data show that INSM2 is the expressed n fetal pancreas., [RefSeq, PubMed]; Insulinoma-associated protein 2 beta (IA-2beta) and zinc transporter-8 may have a role in rapid progression of type 1 diabetes, [RefSeq, PubMed]; May function as a growth suppressor or tumor suppressor in liver cells and in certain neurons., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A1L432;J9Y024;Q8N8K7;Q96Q84", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0030182 neuron differentiation;GO:0010564 regulation of cell cycle process", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96T92-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZZ0-1", "uniprot_id": [ { "id": "HXD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZZ0", "type": "external" } ], "mass": 34093.0, "length": 328, "protein_name": "Homeobox protein Hox-D1", "gene_name": "HOXD1", "organism": "Human", "refseq_name": "homeobox protein Hox-D1", "refseq_ac": [ { "id": "NP_078777", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078777", "type": "external" } ], "gene_names_uniprotkb": "HOXD1; HOX4G; HOX4", "gene_names_refseq": "HOX4G; HOX4; HOXD1; Hox-4.7", "protein_names_uniprotkb": "Homeobox protein Hox-D1; Homeobox protein Hox-GG", "protein_names_refseq": "homeo box 4G; homeo box D1; homeobox protein Hox-D1; homeobox protein Hox-GG", "tax_id": 9606, "disease": "", "pathway": " (hsa:3231); (R-HSA-5617472)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10777502;11455954;15867264;16079151;16549775;17185360;17428788;1756725;17660710;17713478;17761849;17851529;18781158;19115252;19232136;19747919;1975088;19782034;19854132;20085832;22569366;22705304;22879880;23219899;23534758;23630040;24174538;24312487;24586203;24715725;25101834;25135475;2570724;25913784;29242379;31154438;31844290;31848261;32157095;33559901;35051231;37655555;37827698;39450540;7488013;7501971;7831296;7906964;7908827;8674428;8759021;9218805;9272954;9482740", "class_list": "", "function": "A pan-cancer analysis of the role of HOXD1, HOXD3, and HOXD4 and validation in renal cell carcinoma., [RefSeq, PubMed]; HOXD1 functions as a novel tumor suppressor in kidney renal clear cell carcinoma., [RefSeq, PubMed]; HOXD1 inhibits lung adenocarcinoma progression and is regulated by DNA methylation., [RefSeq, PubMed]; Homeobox-D 1 and FTO form a transcriptional-epigenetic feedback loop to promote head and neck cancer proliferation., [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. Acts on the anterior body structures., [UniProtKB]; This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. [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": "B2RAB4", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;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": 5.5, "record_id": "Q9GZZ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H5V7-1", "uniprot_id": [ { "id": "IKZF5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H5V7", "type": "external" } ], "mass": 46510.0, "length": 419, "protein_name": "Zinc finger protein Pegasus", "gene_name": "IKZF5", "organism": "Human", "refseq_name": "zinc finger protein Pegasus isoform 1", "refseq_ac": [ { "id": "NP_001258769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258769", "type": "external" } ], "gene_names_uniprotkb": "IKZF5; ZNFN1A5", "gene_names_refseq": "IKZF5; PEGASUS; THC7; ZNFN1A5", "protein_names_uniprotkb": "Zinc finger protein Pegasus; Ikaros family zinc finger protein 5", "protein_names_refseq": "zinc finger protein Pegasus isoform 1; zinc finger protein Pegasus; zinc finger protein, subfamily 1A, 5 (Pegasus); zinc finger transcription factor Pegasus", "tax_id": 9606, "disease": "thrombocytopenia (Disease Ontology:DOID:1588); thrombocytopenia 7 (MONDO:MONDO:0030867)", "pathway": " (hsa:64376)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10978333;22544926;23481700;24714562;24715725;25218447;25645385;25755297;25772364;27846572;28228285;29557506;30429286;30524438;31217188;31844290;31848261;32157095;32387766;32419556;32938616;33298915;33592498;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35580925;36010968", "class_list": "", "function": "Highly impaired platelet ultrastructure in two families with novel IKZF5 variants., [RefSeq, PubMed]; IKZF5 is a novel transcriptional regulator of megakaryopoiesis and the eighth transcription factor associated with dominant thrombocytopenia in humans., [RefSeq, PubMed]; Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]., [RefSeq]; Transcriptional repressor that binds the core 5'GNNTGTNG-3' DNA consensus sequence (PubMed:10978333, PubMed:31217188). Involved in megakaryocyte differentiation., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 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": "B3KVH7;D3DRE7;Q9H2T0", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9H5V7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXR8-1", "uniprot_id": [ { "id": "ING3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXR8", "type": "external" } ], "mass": 46743.0, "length": 418, "protein_name": "Inhibitor of growth protein 3", "gene_name": "ING3", "organism": "Human", "refseq_name": "inhibitor of growth protein 3 isoform 1", "refseq_ac": [ { "id": "NP_061944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061944", "type": "external" } ], "gene_names_uniprotkb": "ING3; HSPC301", "gene_names_refseq": "Eaf4; ING3; MEAF4; p47ING3", "protein_names_uniprotkb": "Inhibitor of growth protein 3; p47ING3", "protein_names_refseq": "inhibitor of growth protein 3 isoform 1; inhibitor of growth protein 3", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); squamous cell carcinoma (Disease Ontology:DOID:1749); melanoma (Disease Ontology:DOID:1909); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:54556); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10786633;10821277;11237011;12080476;12545155;12963728;14966270;15196461;15313887;16387653;16728974;18381289;18623064;19154204;19187765;19608861;20018852;20068231;24397554;24463511;25218447;25576301;25772364;26811146;26992070;27846572;27862975;28904123;29493099;29557506;30315122;30429286;31154438;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32938616;32983136;33298915;33592498;33717175;33912179;33936100;34171305;34561969;34685579;34787253;34791430;35051231;35561310;35580925;36010968;38253038;38281617;40596516;9427644;9558366;9880483", "class_list": "", "function": "Allelic loss and reduced expression of the ING3, a candidate tumor suppressor gene at 7q31, in human head and neck cancers., [RefSeq, PubMed]; Component of an histone acetyltransferase complex., [UniProtKB, UniProtKB]; Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AZ1 from the nucleosome., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; ING Tumour Suppressors and ING Splice Variants as Coregulators of the Androgen Receptor Signalling in Prostate Cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; ING3 and ING4 immunoexpression and their relation to the development of benign odontogenic lesions., [RefSeq, PubMed]; ING3 inhibits the malignant progression of lung adenocarcinoma by negatively regulating ITGB4 expression to inactivate Src/FAK signaling., [RefSeq, PubMed]; Inhibitor of growth protein 3 epigenetically silences endogenous retroviral elements and prevents innate immune activation., [RefSeq, PubMed]; The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2008]., [RefSeq]; We have isolated a novel ING family gene, p47ING3, which modulates p53-mediated transcription, cell cycle control, and apoptosis. The p47ING3 gene is located at chromosome 7q31.3 and consists of 12 exons that encode 418 amino acids, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K790;O60394;Q567P3;Q6GMT3;Q7Z762;Q969G0;Q96DT4;Q9HC99;Q9P081", "ec_number_list": [], "go_molecular_function": "GO:0043997 histone H4K12 acetyltransferase activity;GO:0008270 zinc ion binding;GO:0043995 histone H4K5 acetyltransferase activity;GO:0043996 histone H4K8 acetyltransferase activity;GO:0046972 histone H4K16 acetyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035267 NuA4 histone acetyltransferase complex;GO:0000812 Swr1 complex;GO:0032777 piccolo histone acetyltransferase complex", "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:0042981 regulation of apoptotic process;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9NXR8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYY1-1", "uniprot_id": [ { "id": "IL20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYY1", "type": "external" } ], "mass": 20072.0, "length": 176, "protein_name": "Interleukin-20", "gene_name": "IL20", "organism": "Human", "refseq_name": "interleukin-20 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061194", "type": "external" } ], "gene_names_uniprotkb": "IL20; PRO1801; ZCYTO10", "gene_names_refseq": "IL-20; IL10D; IL20; ZCYTO10", "protein_names_uniprotkb": "Interleukin-20; Cytokine Zcyto10; IL-20", "protein_names_refseq": "cytokine Zcyto10; four alpha helix cytokine; interleukin-20 isoform 1 precursor", "tax_id": 9606, "disease": "rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); psoriasis (Disease Ontology:DOID:8893)", "pathway": " (hsa:50604); (R-HSA-8854691)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10875937;11163236;11196675;11390453;11390454;11481447;11564763;11706020;12087100;12351624;12469119;12975309;14580208;14764663;15120653;15166220;15178681;15340161;15919823;16511554;1662392;16709143;16750817;16908179;16982608;17277128;17878297;18599299;18669613;18830264;18941194;19457860;19535621;20462497;20671117;20966397;21098725;22802649;22962576;23614738;25004819;27133025;28424238;28458652;30620550;34171305;34403503;35051231;35613844;35681232;36175183;37884352;38356138;7512451;7543512;8830676", "class_list": "", "function": "Examination of ligand/receptor interactions and in signal transduction that may lead to specificity and distinct biology, [RefSeq, PubMed]; IL-20 controls resolution of experimental colitis by regulating epithelial IFN/STAT2 signalling. Publication Status: Online-Only, [RefSeq, PubMed]; IL-20 subfamily cytokines impair the oesophageal epithelial barrier by diminishing filaggrin in eosinophilic oesophagitis., [RefSeq, PubMed]; Interleukin-20 is involved in dry eye disease and is a potential therapeutic target. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of interleukin-20 correlates with favourable prognosis in diffuse large B-cell lymphoma., [RefSeq, PubMed]; Pro-inflammatory and angiogenic cytokine mainly secreted by monocytes and skin keratinocytes that plays crucial roles in immune responses, regulation of inflammatory responses, hemopoiesis, as well as epidermal cell and keratinocyte differentiation (PubMed:17277128, PubMed:34403503). Enhances tissue remodeling and wound-healing activities and restores the homeostasis of epithelial layers during infection and inflammatory responses to maintain tissue integrity (PubMed:17277128). Affects multiple actin-mediated functions in activated neutrophils leading to inhibition of phagocytosis, granule exocytosis, and migration (PubMed:28424238). Exert its effects via the type I IL-20 receptor complex consisting of IL20RA and IL20RB (PubMed:11706020). Alternatively, can mediate its activity through a second receptor complex called type II IL-20 receptor complex composed of IL22RA1 and IL20RB (PubMed:11564763). Acts as an arteriogenic and vascular remodeling factory by activating a range of signaling processes including phosphorylations of JAK2 and STAT5 as well as activation of the serine and threonine kinases AKT and ERK1/2 (By similarity). Alternatively, can activate STAT3 phosphorylation and transcriptional activity in a JAK2, ERK1/2 and p38 MAPK-dependent manner in keratinocytes (PubMed:23614738)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The effect of interleukin-20 on periodontal tissue destruction in individuals with periodontitis., [RefSeq, PubMed]; The protein encoded by this gene is a cytokine structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q17RB3;Q2THG6;Q96QZ6", "ec_number_list": [], "go_molecular_function": "GO:0045517 interleukin-20 receptor binding;GO:0045518 interleukin-22 receptor binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0006955 immune response;GO:0050727 regulation of inflammatory response;GO:0045606 positive regulation of epidermal cell differentiation;GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9NYY1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZH6-1", "uniprot_id": [ { "id": "IL37_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZH6", "type": "external" } ], "mass": 24126.0, "length": 218, "protein_name": "Interleukin-37", "gene_name": "IL37", "organism": "Human", "refseq_name": "interleukin-37 isoform 1", "refseq_ac": [ { "id": "NP_055254", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055254", "type": "external" } ], "gene_names_uniprotkb": "IL37; FIL1Z; IL1F7; IL1H4; IL1RP1", "gene_names_refseq": "FIL1(ZETA); FIL1Z; FIL1; IL-1F7; IL-1H4; IL-1H; IL-1RP1; IL-23; IL-37; IL1F7; IL1H4; IL1RP1; IL37", "protein_names_uniprotkb": "Interleukin-37; FIL1 zeta; IL-1 zeta; IL-1F7; IL-1H4; IL-1H; IL-1RP1; IL-1X; IL-37; Interleukin-1 family member 7; Interleukin-1 homolog 4; Interleukin-1 zeta; Interleukin-1-related protein", "protein_names_refseq": "FIL1 zeta; IL-1 zeta; IL-1F7b (IL-1H4, IL-1H, IL-1RP1); IL-1X protein; IL1F7 (canonical product IL-1F7b); interleukin 1 family member 7; interleukin 1, zeta; interleukin-1 homolog 4; interleukin-1 superfamily z; interleukin-1-related protein; interleukin-23; interleukin-37 isoform 1", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); paracoccidioidomycosis (Disease Ontology:DOID:12662); inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive (MONDO:MONDO:0030314)", "pathway": " (hsa:27178); (R-HSA-9008059); (R-HSA-9012546)", "pathway_count": 3, "publication_count": 31, "publication_id_list": "10023777;10625660;10744718;11145836;11839743;11991723;12096920;12381835;12809600;15527767;18390730;19054851;20935647;24481253;25418920;25729923;27060871;28092676;31530632;32272059;33674380;34078123;34171305;35051231;38412100;38513665;39206201;39260304;39337246;9325300;9792649", "class_list": "", "function": "Epithelial-derived interleukin-23 promotes oral mucosal immunopathology., [RefSeq, PubMed]; IL-37 dampens immunosuppressive functions of MDSCs via metabolic reprogramming in the tumor microenvironment., [RefSeq, PubMed]; Immune regulatory cytokine that acts as a suppressor of innate inflammatory and immune responses involved in curbing excessive inflammation. Signaling can occur via two mechanisms, intracellularly through nuclear translocation with SMAD3 and extracellularly after secretion and binding to its receptor composed of IL18R1 and IL18RAP. Suppresses, or reduces, pro-inflammatory cytokine production, including IL1A and IL6, as well as CCL12, CSF1, CSF2, CXCL13, IL1B, IL23A and IL1RN, but spares anti-inflammatory cytokines. Inhibits dendritic cell activation., [UniProtKB, PubMed, PubMed, PubMed]; Interleukin-37 exacerbates liver inflammation and promotes IFN-gamma production in NK cells., [RefSeq, PubMed]; The Protective Role of Interleukin-37 in Cardiovascular Diseases through Ferroptosis Modulation. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of IL-37 in gastrointestinal diseases. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B5BU97;Q56AP9;Q8TD04;Q8TD05;Q9HBF2;Q9HBF3;Q9UHA6", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005125 cytokine activity;GO:0005149 interleukin-1 receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0071635 negative regulation of transforming growth factor beta production;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0032715 negative regulation of interleukin-6 production;GO:0032720 negative regulation of tumor necrosis factor production", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9NZH6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UG01-1", "uniprot_id": [ { "id": "IF172_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UG01", "type": "external" } ], "mass": 197576.0, "length": 1749, "protein_name": "Intraflagellar transport protein 172 homolog", "gene_name": "IFT172", "organism": "Human", "refseq_name": "intraflagellar transport protein 172 homolog isoform 1", "refseq_ac": [ { "id": "NP_056477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056477", "type": "external" } ], "gene_names_uniprotkb": "IFT172; KIAA1179", "gene_names_refseq": "BBS20; IFT172; NPHP17; RP71; SLB; SRTD10; osm-1; wim", "protein_names_uniprotkb": "Intraflagellar transport protein 172 homolog", "protein_names_refseq": "intraflagellar transport 172 homolog; intraflagellar transport protein 172 homolog isoform 1; intraflagellar transport protein 172 homolog; selective LIM binding factor homolog; wimple homolog", "tax_id": 9606, "disease": "atrioventricular septal defect (Disease Ontology:DOID:0050651); polycystic kidney disease (Disease Ontology:DOID:0080322); Bardet-Biedl syndrome 20 (Disease Ontology:DOID:0081009); short-rib thoracic dysplasia 10 with or without polydactyly (Disease Ontology:DOID:0110091); retinitis pigmentosa 71 (Disease Ontology:DOID:0110363); VACTERL association (Disease Ontology:DOID:14679); cystic kidney disease (Disease Ontology:DOID:2975); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:26160); (R-HSA-5610787); (R-HSA-5620924)", "pathway_count": 3, "publication_count": 200, "publication_id_list": "10069812;10966113;11237011;11285270;11375483;12192414;12435627;12795688;14603322;15087129;15231740;15269286;15489852;15523559;15930098;15955805;16049494;16061793;16136078;16229832;16254602;16311594;16339192;16396903;16435301;16492809;16493421;16707575;16775004;16782012;17027958;17200122;17312020;17314406;17442700;17553904;17574030;17641202;17762891;17960137;18180368;18304522;18327258;18364699;18369462;18455992;18832070;18852297;19000668;19112494;19147001;19196978;19223390;19253336;19286674;19365551;19384852;19450523;19549984;19592253;19666503;19720863;19767740;19776033;19805633;19877275;19906846;19948480;19996169;20067783;20112406;20154143;20207148;20388717;20395968;20412786;20435895;20460306;20526327;20526328;20530210;20844016;20889716;20956384;2105456;21209331;21427764;21695114;21801010;21872626;21936775;21993680;22007132;22118932;22231273;22391300;22544926;22922713;22992454;23209152;23332756;23481700;23719536;23945166;23990561;24140113;24296415;24302888;24339784;24596149;24616010;24714562;24715725;24845016;24863049;24917297;24925320;24952464;25168386;25205765;25349261;25418920;25443296;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26758079;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29093164;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30524438;31844290;32157095;32265295;32350084;32357974;32387766;32451492;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37471416;37938771;39894887;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. Erratum:[PLoS One. 2025 Jan 30;20(1):e0318705. doi: 10.1371/journal.pone.0318705. PMID: 39883651] Publication Status: Online-Only, [RefSeq, PubMed]; Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "A5PKZ0;B2RNU5;Q86X44;Q96HW4;Q9UFJ9;Q9ULP1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0097598 sperm cytoplasmic droplet;GO:0005929 cilium;GO:0005930 axoneme;GO:0036064 ciliary basal body;GO:0097228 sperm principal piece", "go_biological_process": "GO:0060271 cilium assembly;GO:0007224 smoothened signaling pathway;GO:0042073 intraciliary transport;GO:0035720 intraciliary anterograde transport;GO:0044782 cilium organization", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "Q9UG01-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHD0-1", "uniprot_id": [ { "id": "IL19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHD0", "type": "external" } ], "mass": 20452.0, "length": 177, "protein_name": "Interleukin-19", "gene_name": "IL19", "organism": "Human", "refseq_name": "interleukin-19 precursor", "refseq_ac": [ { "id": "NP_037503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037503", "type": "external" } ], "gene_names_uniprotkb": "IL19; ZMDA1", "gene_names_refseq": "IL-10C; IL19; MDA1; NG.1; ZMDA1", "protein_names_uniprotkb": "Interleukin-19; IL-19; Melanoma differentiation-associated protein-like protein; NG.1", "protein_names_refseq": "interleukin-19 precursor; melanoma differentiation associated protein-like protein", "tax_id": 9606, "disease": "toxic shock syndrome (Disease Ontology:DOID:14115); asthma (Disease Ontology:DOID:2841); periodontal disease (Disease Ontology:DOID:3388)", "pathway": " (hsa:29949); (R-HSA-5684996); (R-HSA-8854691)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "10875937;11163236;11196675;11390453;11390454;11481447;11564763;11706020;12087100;12351624;12370360;12403790;12469119;14580208;14764663;15120653;15166220;15178681;15340161;15919823;16365913;1662392;16750817;16982608;17878297;18599299;18669613;18830264;18941194;19457860;19535621;19906316;20462497;20671117;20966397;21098725;22802649;22962576;25004819;27133025;28458652;28832583;34932373;35928364;35988273;36161738;36163397;38057745;7512451;7543512;8830676", "class_list": "", "function": "Association between interleukin-19 gene polymorphisms and maternal puerperal infection. Publication Status: Online-Only, [RefSeq, PubMed]; Comparison of TNF-alpha and IL-19 concentrations at different stages of breast cancer., [RefSeq, PubMed]; Cytokine that functions as an anti-inflammatory and proangiogenic factor (PubMed:34932373). Polarizes adaptive immunity to an anti-inflammatory phenotype through induction of T-helper 2 responses by both down-regulation of IFN-gamma and up-regulation of IL4 and IL13 (PubMed:16365913). Produced by osteocytes, stimulates granulopoiesis and neutrophil formation (By similarity). Exerts its biological effect through a receptor complex consisting of a heterodimer of IL20RA and IL20RB (PubMed:12351624). In turn, activates the Janus kinase (JAK) and signal transducer and activator of transcription (STAT) pathway, and importantly, STAT3 (PubMed:11564763)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Highlighting allelic variations at the interleukin-19 locus in term of preeclampsia predisposing factors and access to an accurate diagnostic/screening option. Publication Status: Online-Only, [RefSeq, PubMed]; Interleukin-19 is associated with severity and age-related phenotype of atopic dermatitis in children., [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of interleukin-19 in saliva of patients with COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B6VEV9;Q5VUT3;Q96QR4;Q9NUA0", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006955 immune response;GO:0007165 signal transduction;GO:0006915 apoptotic process;GO:0010989 negative regulation of low-density lipoprotein particle clearance", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9UHD0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y581-1", "uniprot_id": [ { "id": "INSL6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y581", "type": "external" } ], "mass": 24860.0, "length": 213, "protein_name": "Insulin-like peptide INSL6", "gene_name": "INSL6", "organism": "Human", "refseq_name": "insulin-like peptide INSL6 precursor", "refseq_ac": [ { "id": "NP_009110", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009110", "type": "external" } ], "gene_names_uniprotkb": "INSL6; RIF1", "gene_names_refseq": "INSL6; RIF1", "protein_names_uniprotkb": "Insulin-like peptide INSL6; Insulin-like peptide 6; Relaxin/insulin-like factor 1", "protein_names_refseq": "insulin-like peptide 5; insulin-like peptide 6; insulin-like peptide INSL6 precursor; insulin-like peptide INSL6; relaxin/insulin-like factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:11172)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10598589;10819760;11237011;24715725;28218747;29437277;34357683;36798786;40596516", "class_list": "", "function": "May have a role in sperm development and fertilization., [UniProtKB]; Myocardial Infarction-Induced INSL6 Decrease Contributes to Breast Cancer Progression. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [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": "A0AVS0;Q9NS16", "ec_number_list": [], "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9Y581-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5Q6-1", "uniprot_id": [ { "id": "INSL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5Q6", "type": "external" } ], "mass": 15333.0, "length": 135, "protein_name": "Insulin-like peptide INSL5", "gene_name": "INSL5", "organism": "Human", "refseq_name": "insulin-like peptide INSL5 precursor", "refseq_ac": [ { "id": "NP_005469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005469", "type": "external" } ], "gene_names_uniprotkb": "INSL5; PRO182", "gene_names_refseq": "INSL5; PRO182; UNQ156", "protein_names_uniprotkb": "Insulin-like peptide INSL5; Insulin-like peptide 5", "protein_names_refseq": "insulin-like peptide 5; insulin-like peptide INSL5 precursor; insulin-like peptide INSL5; prepro-INSL5", "tax_id": 9606, "disease": "", "pathway": " (hsa:10022); (R-HSA-418594); (R-HSA-444821)", "pathway_count": 3, "publication_count": 26, "publication_id_list": "10458910;11007482;12120503;12506116;12975309;14522967;14522968;15340161;15525639;15951850;16634148;16923326;18434541;18576448;18577758;19178384;2534964;2748346;2834384;32657028;34680872;36303231;37207506;7937899;8015379;8406495", "class_list": "", "function": "Autocrine INSL5 promotes tumor progression and glycolysis via activation of STAT5 signaling., [RefSeq, PubMed]; Expression of Cytokine-Coding Genes BMP8B, LEFTY1 and INSL5 Could Distinguish between Ulcerative Colitis and Crohn's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Insulin-like peptide 5 (INSL5) positively correlates with anti-Mullerian hormone (AMH) in women with the polycystic ovary syndrome: a case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; Insulin-like peptide 5 is associated with insulin resistance in women with polycystic ovary syndrome., [RefSeq, PubMed]; May have a role in gut contractility or in thymic development and regulation. Activates RXFP4 with high potency and appears to be the endogenous ligand for this receptor., [UniProtKB]; The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). [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": "Q3MIY4;Q5VYD8", "ec_number_list": [], "go_molecular_function": "GO:0001664 G protein-coupled receptor binding;GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:2000253 positive regulation of feeding behavior", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9Y5Q6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6ND01-1", "uniprot_id": [ { "id": "JUNO_HUMAN", "url": "https://www.uniprot.org/uniprot/A6ND01", "type": "external" } ], "mass": 28672.0, "length": 250, "protein_name": "Sperm-egg fusion protein Juno", "gene_name": "IZUMO1R", "organism": "Human", "refseq_name": "sperm-egg fusion protein Juno precursor", "refseq_ac": [ { "id": "NP_001186135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186135", "type": "external" } ], "gene_names_uniprotkb": "IZUMO1R; FOLR4; JUNO", "gene_names_refseq": "FOLR4; FR-delta; Folbp3; IZUMO1R; JUNO", "protein_names_uniprotkb": "Sperm-egg fusion protein Juno; FR-delta; Folate receptor 4; Folate receptor delta; IZUMO1 receptor protein JUNO", "protein_names_refseq": "IZUMO1 receptor protein JUNO; IZUMO1 receptor, JUNO, FR-delta; folate receptor 4 (delta) homolog; folate receptor 4, delta (putative); probable folate receptor delta; sperm-egg fusion protein Juno precursor; sperm-egg fusion protein Juno", "tax_id": 9606, "disease": "", "pathway": " (hsa:390243); (R-HSA-163125)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "11072085;2443973;24739963;27309808;27309818;27416963;29243140;30517645;3422494;34879103;35051231;36070373", "class_list": "", "function": "Crystal structures of human IZUMO1 and JUNO in unbound and bound conformations, [RefSeq, PubMed]; Crystal structures of human IZUMO1, JUNO and the IZUMO1-JUNO complex, establishing the structural basis for the IZUMO1-JUNO-mediated sperm-oocyte interaction, [RefSeq, PubMed]; Genetic diversity in the IZUMO1-JUNO protein-receptor pair involved in human reproduction. Publication Status: Online-Only, [RefSeq, PubMed]; JUNO interacts with IZUMO1 during sperm binding. Publication Status: Online-Only, [RefSeq, PubMed]; Juno single nucleotide polymorphisms associated with fertilization failure and polyspermy after in vitro fertilization in women., [RefSeq, PubMed]; Receptor for IZUMO1 present at the cell surface of oocytes (oolemma), which is essential for species-specific gamete recognition and fertilization. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion (PubMed:30517645). The ligand-receptor interaction probably does not act as a membrane 'fusogen'. Does not bind folate., [UniProtKB, UniProtKB, PubMed]; Study revealed a progressive expression of JUNO according to oocyte maturity and showed that human zona-free oocytes, inseminated in the presence of anti-hJUNO mAb, were not fertilized by human sperm., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 5, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0031528 microvillus membrane", "go_biological_process": "GO:0035036 sperm-egg recognition;GO:0007155 cell adhesion;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0007338 single fertilization", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A6ND01-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B1AKI9-1", "uniprot_id": [ { "id": "ISM1_HUMAN", "url": "https://www.uniprot.org/uniprot/B1AKI9", "type": "external" } ], "mass": 52107.0, "length": 464, "protein_name": "Isthmin-1", "gene_name": "ISM1", "organism": "Human", "refseq_name": "isthmin-1 precursor", "refseq_ac": [ { "id": "NP_543016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543016", "type": "external" } ], "gene_names_uniprotkb": "ISM1; C20orf82; ISM", "gene_names_refseq": "C20orf82; ISM1; ISM; Isthmin; bA149I18.1; dJ1077I2.1", "protein_names_uniprotkb": "Isthmin-1", "protein_names_refseq": "isthmin 1 homolog; isthmin 1, angiogenesis inhibitor; isthmin-1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:140862)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "12128218;21544092;26552660;32157095;32502341;33412225;35051231;35580925;36126993;36769045;37852798;37979212;39322582", "class_list": "", "function": "Acts as an angiogenesis inhibitor., [UniProtKB, UniProtKB]; Investigation of serum isthmin 1 concentration in pregnant women diagnosed with gestational diabetes mellitus; a case-control study., [RefSeq, PubMed]; Isthmin unexpectedly has both a pro-survival and death-promoting effect on endothelial cells depending on its physical state. Publication Status: Online-Only, [RefSeq, PubMed]; Isthmin: A multifunctional secretion protein. Review article, [RefSeq, PubMed]; Serum isthmin-1 is a potential biomarker for metabolic dysfunction associated fatty liver disease in patients with metabolic syndrome and type 2 diabetes mellitus. Publication Status: Online-Only, [RefSeq, PubMed]; Serum isthmin-1 levels are positively and independently correlated with albuminuria in patients with type 2 diabetes mellitus., [RefSeq, PubMed]; The Angiogenesis Inhibitor Isthmin-1 (ISM1) Is Overexpressed in Experimental Models of Glomerulopathy and Impairs the Viability of Podocytes. 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": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 1, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 2, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 2, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 2, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8WVH9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0016525 negative regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "B1AKI9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0010001010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9JR72-1", "uniprot_id": [ { "id": "KBTBD_HUMAN", "url": "https://www.uniprot.org/uniprot/C9JR72", "type": "external" } ], "mass": 49485.0, "length": 458, "protein_name": "Kelch repeat and BTB domain-containing protein 13", "gene_name": "KBTBD13", "organism": "Human", "refseq_name": "kelch repeat and BTB domain-containing protein 13", "refseq_ac": [ { "id": "NP_001094832", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094832", "type": "external" } ], "gene_names_uniprotkb": "KBTBD13", "gene_names_refseq": "HCG1645727; KBTBD13; NEM6", "protein_names_uniprotkb": "Kelch repeat and BTB domain-containing protein 13", "protein_names_refseq": "kelch repeat and BTB (POZ) domain containing 13; kelch repeat and BTB domain-containing protein 13; nemaline myopathy type 6", "tax_id": 9606, "disease": "nemaline myopathy 6 (Disease Ontology:DOID:0110935)", "pathway": " (hsa:390594); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 137, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21109227;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22542517;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26758079;26906416;27030794;27222660;27565346;28115426;29153394;29242379;29557506;30484775;30610225;31671076;32005965;32284348;33444648;33693846;35051231;36335629;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "KBTBD13 is a novel cardiomyopathy gene., [RefSeq, PubMed]; KBTBD13 is an actin-binding protein that modulates muscle kinetics. Erratum:[J Clin Invest. 2024 Feb 01;134(3):e179111. doi: 10.1172/JCI179111. PMID: 38299595], [RefSeq, PubMed]; Mutation screening led to the identification of a previously uncharacterized gene, KBTBD13, coding for a hypothetical protein and containing missense mutations that perfectly cosegregate with nemaline myopathy in the studied families Erratum:[Am J Hum Genet. 2011 Jan 7;88(1):122], [RefSeq, PubMed]; NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material., [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex., [UniProtKB, PubMed]; The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]., [RefSeq]; These results demonstrate that KBTBD13 is a putative substrate adaptor for Cul3-RL that functions as a muscle specific ubiquitin ligase, and thereby implicate the ubiquitin proteasome pathway in the pathogenesis of KBTBD13-associated NEM., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0014728 regulation of the force of skeletal muscle contraction;GO:0090076 relaxation of skeletal muscle", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "C9JR72-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61371-1", "uniprot_id": [ { "id": "ISL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P61371", "type": "external" } ], "mass": 39036.0, "length": 349, "protein_name": "Insulin gene enhancer protein ISL-1", "gene_name": "ISL1", "organism": "Human", "refseq_name": "insulin gene enhancer protein ISL-1", "refseq_ac": [ { "id": "NP_002193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002193", "type": "external" } ], "gene_names_uniprotkb": "ISL1", "gene_names_refseq": "ISL1; ISLET1; Isl-1", "protein_names_uniprotkb": "Insulin gene enhancer protein ISL-1; Islet-1", "protein_names_refseq": "insulin gene enhancer protein ISL-1; islet-1", "tax_id": 9606, "disease": "atrial fibrillation (Disease Ontology:DOID:0060224); 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); myocardial infarction (Disease Ontology:DOID:5844); double outlet right ventricle (Disease Ontology:DOID:6406); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:3670); (R-HSA-400511); (R-HSA-9010553); (R-HSA-9733709)", "pathway_count": 4, "publication_count": 41, "publication_id_list": "10366038;11237011;15095414;15584901;16219666;18088087;18202141;18519800;18593849;19479054;19706539;21403123;23217742;23481700;23746841;25187301;25242263;26783251;2890159;28904123;29636455;30078552;30379171;31844290;32157095;32357974;32387766;32938616;33054971;33962568;34171305;34509645;35051231;36010968;36830727;37782193;37863045;7907017;7912209;8100523;8428636", "class_list": "", "function": "DNA-binding transcriptional activator. Recognizes and binds to the consensus octamer binding site 5'-ATAATTAA-3' in promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor POU4F2 to achieve maximal levels of expression of RGC target genes and RGC fate specification in the developing retina. Involved in the specification of motor neurons in cooperation with LHX3 and LDB1 (By similarity). Binds to insulin gene enhancer sequences (By similarity). Essential for heart development. Marker of one progenitor cell population that give rise to the outflow tract, right ventricle, a subset of left ventricular cells, and a large number of atrial cells as well, its function is required for these progenitors to contribute to the heart. Controls the expression of FGF and BMP growth factors in this cell population and is required for proliferation and survival of cells within pharyngeal foregut endoderm and adjacent splanchnic mesoderm as well as for migration of cardiac progenitors into the heart (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Genetic Variants of ISL1 Gene Promoter Identified from Congenital Tetralogy of Fallot Patients Alter Cellular Function Forming Disease Basis. Publication Status: Online-Only, [RefSeq, PubMed]; Human breast milk cells are positive for the pioneer transcription factor ISL1., [RefSeq, PubMed]; The multi-lineage transcription factor ISL1 controls cardiomyocyte cell fate through interaction with NKX2.5., [RefSeq, PubMed]; This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P20663;P47894", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0000987 cis-regulatory region sequence-specific DNA binding;GO:0030274 LIM domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0032730 positive regulation of interleukin-1 alpha production;GO:0045880 positive regulation of smoothened signaling pathway;GO:0060384 innervation;GO:0048880 sensory system development;GO:0048936 peripheral nervous system neuron axonogenesis", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P61371-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JJ6-1", "uniprot_id": [ { "id": "JPH4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JJ6", "type": "external" } ], "mass": 65861.0, "length": 628, "protein_name": "Junctophilin-4", "gene_name": "JPH4", "organism": "Human", "refseq_name": "junctophilin-4", "refseq_ac": [ { "id": "NP_001139500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139500", "type": "external" } ], "gene_names_uniprotkb": "JPH4; JPHL1; KIAA1831", "gene_names_refseq": "JP4; JPH4; JPHL1", "protein_names_uniprotkb": "Junctophilin-4; JP-4; Junctophilin-like 1 protein", "protein_names_refseq": "JP-4; junctophilin like 1; junctophilin-4; junctophilin-like 1 protein", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700)", "pathway": " (hsa:84502)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;14559359;19095005;31844290;35051231;37217939", "class_list": "", "function": "Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH4 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory (By similarity)., [UniProtKB]; Reports the gene structure of human JPH4, [RefSeq, PubMed]; Reviews the structure and function of human junctophilins Review article, [RefSeq, PubMed]; This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DS53;Q8ND44;Q96DQ0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005790 smooth endoplasmic reticulum;GO:0005886 plasma membrane;GO:0043198 dendritic shaft;GO:0005789 endoplasmic reticulum membrane;GO:0014701 junctional sarcoplasmic reticulum membrane", "go_biological_process": "GO:0048167 regulation of synaptic plasticity;GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;GO:0060402 calcium ion transport into cytosol;GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96JJ6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A47-1", "uniprot_id": [ { "id": "ISL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A47", "type": "external" } ], "mass": 39768.0, "length": 359, "protein_name": "Insulin gene enhancer protein ISL-2", "gene_name": "ISL2", "organism": "Human", "refseq_name": "insulin gene enhancer protein ISL-2", "refseq_ac": [ { "id": "NP_665804", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_665804", "type": "external" } ], "gene_names_uniprotkb": "ISL2", "gene_names_refseq": "ISL2", "protein_names_uniprotkb": "Insulin gene enhancer protein ISL-2; Islet-2", "protein_names_refseq": "ISL2 transcription factor, LIM/homeodomain, (islet-2); insulin gene enhancer protein ISL-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64843)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;15302935;17091338;18669648;19413330;19690332;23186163;28832583;29242379;33298915;33592498;34171305;35051231;35508175", "class_list": "", "function": "ISL2 is a putative tumor suppressor whose epigenetic silencing reprograms the metabolism of pancreatic cancer., [RefSeq, PubMed]; The broad expression of Isl-2 gene in tissues during embryogenesis and adult development suggests that it may be involved in both differentiation and maintenance of these tissues and might play an important role., [RefSeq, PubMed]; Transcriptional factor that defines subclasses of motoneurons that segregate into columns in the spinal cord and select distinct axon pathways., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KM37", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046872 metal ion binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0000987 cis-regulatory region 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:0007409 axonogenesis;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0048666 neuron development;GO:0048665 neuron fate specification;GO:0048935 peripheral nervous system neuron development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q96A47-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43525-1", "uniprot_id": [ { "id": "KCNQ3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43525", "type": "external" } ], "mass": 96742.0, "length": 872, "protein_name": "Potassium voltage-gated channel subfamily KQT member 3", "gene_name": "KCNQ3", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily KQT member 3 isoform 2", "refseq_ac": [ { "id": "NP_001191753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191753", "type": "external" } ], "gene_names_uniprotkb": "KCNQ3", "gene_names_refseq": "BFNC2; EBN2; KCNQ3; KV7.3", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily KQT member 3; KQT-like 3; Potassium channel subunit alpha KvLQT3; Voltage-gated potassium channel subunit Kv7.3", "protein_names_refseq": "potassium channel subunit alpha KvLQT3; potassium channel, voltage gated KQT-like subfamily Q, member 3; potassium channel, voltage-gated, subfamily Q, member 3; potassium voltage-gated channel subfamily KQT member 3 isoform 2; potassium voltage-gated channel, KQT-like subfamily, member 3; voltage-gated potassium channel subunit Kv7.3", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 7 (Disease Ontology:DOID:0080462); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); heart conduction disease (Disease Ontology:DOID:10273); autistic disorder (Disease Ontology:DOID:12849); benign neonatal seizures (Disease Ontology:DOID:14264); long QT syndrome (Disease Ontology:DOID:2843)", "pathway": " (hsa:3786); (R-HSA-1296072); (R-HSA-445095)", "pathway_count": 3, "publication_count": 45, "publication_id_list": "10479678;10713399;10713961;10788442;10852552;10908292;10953053;11034315;11159685;11222639;11237011;14534157;16319223;16597699;16904324;17223356;17924679;20058876;20393197;21231794;22612257;23360469;24715725;25303527;25982755;27445338;27564677;28121444;28228285;28657654;28793216;29242379;29437277;31844290;32350084;32488085;33037390;35051231;35251023;35384780;37648039;38049972;9425900;9677360;9872318", "class_list": "", "function": "Impacted spike frequency adaptation associated with reduction of KCNQ2/3 exacerbates seizure activity in temporal lobe epilepsy., [RefSeq, PubMed]; Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant., [RefSeq, PubMed]; Pore-forming subunit of the voltage-gated potassium (Kv) M-channel which is responsible for the M-current, a key controller of neuronal excitability (PubMed:16319223, PubMed:27564677, PubMed:28793216, PubMed:9872318). M-channel is composed of pore-forming subunits KCNQ2 and KCNQ3 assembled as heterotetramers (PubMed:14534157, PubMed:16319223, PubMed:27564677, PubMed:9872318). The native M-current has a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs (PubMed:14534157, PubMed:16319223, PubMed:28793216). M-channel is selectively permeable in vitro to other cations besides potassium, in decreasing order of affinity K(+) > Rb(+) > Cs(+) > Na(+) (PubMed:28793216). M-channel association with SLC5A3/SMIT1 alters channel ion selectivity, increasing Na(+) and Cs(+) permeation relative to K(+) (PubMed:28793216). Suppressed by activation of M1 muscarinic acetylcholine receptors (PubMed:10713961). KCNQ3 also associates with KCNQ5 to form a functional channel in vitro and may also contribute to the M-current in brain (PubMed:11159685)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; SMAD4 and KCNQ3 alterations are associated with lymph node metastases in oesophageal adenocarcinoma., [RefSeq, PubMed]; The identification of two pathogenic variants in a family with mild and severe forms of developmental delay., [RefSeq, PubMed]; This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2VCT8;B4DJY4;E7EQ89", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005249 voltage-gated potassium channel activity;GO:0022843 voltage-gated monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0045202 synapse;GO:0008076 voltage-gated potassium channel complex;GO:0033268 node of Ranvier", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "O43525-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60268-1", "uniprot_id": [ { "id": "K0513_HUMAN", "url": "https://www.uniprot.org/uniprot/O60268", "type": "external" } ], "mass": 46639.0, "length": 411, "protein_name": "Uncharacterized protein KIAA0513", "gene_name": "KIAA0513", "organism": "Human", "refseq_name": "uncharacterized protein KIAA0513 isoform a", "refseq_ac": [ { "id": "NP_001273494", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273494", "type": "external" } ], "gene_names_uniprotkb": "KIAA0513", "gene_names_refseq": "KIAA0513", "protein_names_uniprotkb": "Uncharacterized protein KIAA0513", "protein_names_refseq": "uncharacterized protein KIAA0513 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:9764)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;17010949;23481700;26375851;27862975;28832583;29242379;29393594;29493099;29557506;29632046;29786170;31530632;31844290;31848261;32157095;32938616;32983136;33968037;34185709;35580925;36010968", "class_list": "", "function": "KIAA0513 is likely to be involved in signaling pathways related to neuroplasticity, apoptosis, and cytoskeletal regulation and is upregulated in the prefrontal cortex in schizophrenia., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DSS5;D3DUM2;Q8N6G0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "O60268-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60928-1", "uniprot_id": [ { "id": "KCJ13_HUMAN", "url": "https://www.uniprot.org/uniprot/O60928", "type": "external" } ], "mass": 40530.0, "length": 360, "protein_name": "Inward rectifier potassium channel 13", "gene_name": "KCNJ13", "organism": "Human", "refseq_name": "inward rectifier potassium channel 13 isoform 2", "refseq_ac": [ { "id": "NP_001165887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165887", "type": "external" } ], "gene_names_uniprotkb": "KCNJ13", "gene_names_refseq": "KCNJ13; KIR1.4; KIR7.1; LCA16; SVD", "protein_names_uniprotkb": "Inward rectifier potassium channel 13; Inward rectifier K(+) channel Kir7.1; Potassium channel, inwardly rectifying subfamily J member 13", "protein_names_refseq": "inward rectifier K(+) channel Kir7.1; inward rectifier potassium channel 13 isoform 2; potassium channel, inwardly rectifying subfamily J, member 13; potassium voltage-gated channel subfamily J member 13", "tax_id": 9606, "disease": "Leber congenital amaurosis 16 (Disease Ontology:DOID:0110118); snowflake vitreoretinal degeneration (Disease Ontology:DOID:0111570); Leber congenital amaurosis (Disease Ontology:DOID:14791)", "pathway": " (hsa:3769)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;18035352;18179896;18976636;21763485;28832583;29242379;32437550;35477418;36717105;39951488;9620703;9738472;9878260", "class_list": "", "function": "A novel phenotype associated with the R162W variant in the KCNJ13 gene., [RefSeq, PubMed]; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium., [UniProtKB, PubMed, PubMed]; KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in Retinal Pigment Epithelium Derived from Human-Induced Pluripotent Stem Cells., [RefSeq, PubMed]; The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control. Review article, [RefSeq, PubMed]; This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[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": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0PGH1;O76023;Q53SA1;Q8N3Y4", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0006813 potassium ion transport;GO:1990573 potassium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "O60928-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76095-1", "uniprot_id": [ { "id": "JTB_HUMAN", "url": "https://www.uniprot.org/uniprot/O76095", "type": "external" } ], "mass": 16358.0, "length": 146, "protein_name": "Protein JTB", "gene_name": "JTB", "organism": "Human", "refseq_name": "protein JTB precursor", "refseq_ac": [ { "id": "NP_006685", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006685", "type": "external" } ], "gene_names_uniprotkb": "JTB; HSPC222", "gene_names_refseq": "HJTB; HSPC222; JTB; PAR; hJT", "protein_names_uniprotkb": "Protein JTB; Jumping translocation breakpoint protein; PAR protein; Prostate androgen-regulated protein", "protein_names_refseq": "jumping translocation breakpoint protein; prostate androgen-regulated protein; protein JTB precursor; protein JTB", "tax_id": 9606, "disease": "", "pathway": " (hsa:10899)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10321732;10762645;12586295;17369841;19487072;20934997;21225229;22079049;23297497;24714562;25576301;26728094;26992070;28218747;28832583;28904123;29242379;29314611;29437277;29493099;30315122;30459171;31530632;31844290;32350084;32897882;32938616;32983136;33298915", "class_list": "", "function": "Among ten hepatocellular carcinoma cases with amplicon 1q21-q22, significant gene expression level of JTB, SHC1, CCT3 and COPA in the tumors than the paired adjacent non-malignant liver tissues., [RefSeq, PubMed]; Downregulation of the PAR expression increases the Bax/Bcl-2 ratio and Bax expression, and thus induces the G2-M phase arrest and apoptosis of PC3 cells., [RefSeq, PubMed]; Due to its involvement in cell cycle and its overexpression in several human cancers PAR could represent an attractive target for therapeutic intervention., [RefSeq, PubMed]; Overexpression of JTB conferred resistance to apoptosis induced by ultraviolet radiation, [RefSeq, PubMed]; Required for normal cytokinesis during mitosis. Plays a role in the regulation of cell proliferation. May be a component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Increases AURKB activity. Inhibits apoptosis induced by TGFB1 (By similarity). Overexpression induces swelling of mitochondria and reduces mitochondrial membrane potential (By similarity)., [UniProtKB, PubMed]; The JTB structure has a distant relationship to the midkine/pleiotrophin fold, particularly in the conservation of distinctive disulfide bridge patterns., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_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": 3, "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": "O95442;Q6IB19;Q9P0Q4", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005813 centrosome;GO:0005819 spindle;GO:0005886 plasma membrane", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0042127 regulation of cell population proliferation;GO:0006915 apoptotic process;GO:0045860 positive regulation of protein kinase activity;GO:0000281 mitotic cytokinesis", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "O76095-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29622-1", "uniprot_id": [ { "id": "KAIN_HUMAN", "url": "https://www.uniprot.org/uniprot/P29622", "type": "external" } ], "mass": 48542.0, "length": 427, "protein_name": "Kallistatin", "gene_name": "SERPINA4", "organism": "Human", "refseq_name": "kallistatin isoform 1", "refseq_ac": [ { "id": "NP_001275961", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275961", "type": "external" } ], "gene_names_uniprotkb": "SERPINA4; KST; PI4", "gene_names_refseq": "KAL; KLST; KST; PI-4; PI4; SERPINA4; kallistatin", "protein_names_uniprotkb": "Kallistatin; Kallikrein inhibitor; PI-4; Peptidase inhibitor 4; Serpin A4", "protein_names_refseq": "kallikrein inhibitor; kallistatin isoform 1; peptidase inhibitor 4; protease inhibitor 4 (kallistatin); serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4; serpin A4; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4; sserpin family A member 4; testicular secretory protein Li 22", "tax_id": 9606, "disease": "diabetic retinopathy (Disease Ontology:DOID:8947)", "pathway": " (hsa:5267); (R-HSA-114608); (R-HSA-9925561)", "pathway_count": 3, "publication_count": 28, "publication_id_list": "12754519;1334488;1435334;14630798;15297306;16335952;19139490;23090970;23640497;29391424;29557506;29632711;29671580;29741879;30237853;31154438;32387766;32488085;34087483;34465809;35772987;37074911;37846113;38383562;6457647;7835886;8227002;8467233", "class_list": "", "function": "Inhibits human amidolytic and kininogenase activities of tissue kallikrein. Inhibition is achieved by formation of an equimolar, heat- and SDS-stable complex between the inhibitor and the enzyme, and generation of a small C-terminal fragment of the inhibitor due to cleavage at the reactive site by tissue kallikrein., [UniProtKB, PubMed]; Kallistatin deficiency exacerbates neuronal damage after cardiac arrest. Publication Status: Online-Only, [RefSeq, PubMed]; Kallistatin limits abdominal aortic aneurysm by attenuating generation of reactive oxygen species and apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma E-selectin and kallistatin as predictive markers of histologic chorioamnionitis in women with preterm premature rupture of membranes., [RefSeq, PubMed]; [Relationship of the kallistatin gene expression with male spermatogenic dysfunction and its possible mechanism]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 8551, "biomarker_type": "", "glycan_count": 39, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q53XB5;Q86TR9;Q96BZ5", "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:0070062 extracellular exosome;GO:0031089 platelet dense granule lumen", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P29622-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15053-1", "uniprot_id": [ { "id": "K0040_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15053", "type": "external" } ], "mass": 11435.0, "length": 99, "protein_name": "Uncharacterized protein KIAA0040", "gene_name": "KIAA0040", "organism": "Human", "refseq_name": "uncharacterized protein KIAA0040", "refseq_ac": [ { "id": "NP_001156365", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156365", "type": "external" } ], "gene_names_uniprotkb": "KIAA0040", "gene_names_refseq": "IAMP; KIAA0040", "protein_names_uniprotkb": "Uncharacterized protein KIAA0040", "protein_names_refseq": "Inflammation Associated MicroPeptide; uncharacterized protein KIAA0040", "tax_id": 9606, "disease": "", "pathway": " (hsa:9674)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;21703634;21956439;32502341;33936100;33981976;38661644;39894887", "class_list": "", "function": "Conclude that KIAA0040 might harbor a causal variant for AD and thus might directly contribute to risk for this disorder. Erratum:[Neuropsychopharmacology. 2012 Jan;37(2):581-2], [RefSeq, PubMed]; KIAA0040 enhances glioma growth by controlling the JAK2/STAT3 signalling pathway., [RefSeq, PubMed]; Several flanking SNPs of the top hits in the meta-analysis demonstrated borderline associations with alcohol dependence in the family sample for KIAA0040, NRD1 and THSD7B, respectively., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "A8K9H6;J3QR46;Q2NKQ0", "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": "Q15053-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3SXP7-1", "uniprot_id": [ { "id": "SHSL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3SXP7", "type": "external" } ], "mass": 22573.0, "length": 199, "protein_name": "Protein shisa-like-1", "gene_name": "SHISAL1", "organism": "Human", "refseq_name": "protein shisa-like-1 precursor", "refseq_ac": [ { "id": "NP_001092764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092764", "type": "external" } ], "gene_names_uniprotkb": "SHISAL1; KIAA1644", "gene_names_refseq": "KIAA1644; SHISAL1", "protein_names_uniprotkb": "Protein shisa-like-1", "protein_names_refseq": "protein shisa-like-1 precursor; protein shisa-like-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:85352)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11258795;36241641", "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": 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": "A6NHP0;A9Z1Z0;Q3SXP8;Q5JZ71;Q9BYB5", "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": "Q3SXP7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3ZCT8-1", "uniprot_id": [ { "id": "KBTBC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3ZCT8", "type": "external" } ], "mass": 71096.0, "length": 623, "protein_name": "Kelch repeat and BTB domain-containing protein 12", "gene_name": "KBTBD12", "organism": "Human", "refseq_name": "kelch repeat and BTB domain-containing protein 12", "refseq_ac": [ { "id": "NP_997218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997218", "type": "external" } ], "gene_names_uniprotkb": "KBTBD12; KLHDC6", "gene_names_refseq": "KBTBD12; KLHDC6", "protein_names_uniprotkb": "Kelch repeat and BTB domain-containing protein 12; Kelch domain-containing protein 6", "protein_names_refseq": "kelch domain containing 6; kelch domain-containing protein 6; kelch repeat and BTB (POZ) domain containing 12; kelch repeat and BTB domain-containing protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:166348)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;24715725;28904123;29242379;29393594;29557506;31844290;32938616;34087483", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B5MCC6;Q6ZRK1", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q3ZCT8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53RY4-1", "uniprot_id": [ { "id": "KCP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53RY4", "type": "external" } ], "mass": 25627.0, "length": 240, "protein_name": "Keratinocyte-associated protein 3", "gene_name": "KRTCAP3", "organism": "Human", "refseq_name": "keratinocyte-associated protein 3", "refseq_ac": [ { "id": "NP_001161836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161836", "type": "external" } ], "gene_names_uniprotkb": "KRTCAP3; KCP3; PRO9898", "gene_names_refseq": "KCP3; KRTCAP3", "protein_names_uniprotkb": "Keratinocyte-associated protein 3; KCP-3", "protein_names_refseq": "keratinocyte-associated protein 3; keratinocytes associated protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:200634)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;12752121;12975309;32983136;34932366;35580925;36241641", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZL49;Q6UW42;Q8IWS5", "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": "Q53RY4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2B9-1", "uniprot_id": [ { "id": "IPKG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2B9", "type": "external" } ], "mass": 7910.0, "length": 76, "protein_name": "cAMP-dependent protein kinase inhibitor gamma", "gene_name": "PKIG", "organism": "Human", "refseq_name": "cAMP-dependent protein kinase inhibitor gamma", "refseq_ac": [ { "id": "NP_001268373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268373", "type": "external" } ], "gene_names_uniprotkb": "PKIG", "gene_names_refseq": "PKI-gamma; PKIG", "protein_names_uniprotkb": "cAMP-dependent protein kinase inhibitor gamma; PKI-gamma", "protein_names_refseq": "cAMP-dependent protein kinase inhibitor gamma; protein kinase (cAMP-dependent, catalytic) inhibitor gamma", "tax_id": 9606, "disease": "", "pathway": " (hsa:11142)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10880337;11237011;11742798;16870489;23963683;31844290;33968037;9218452", "class_list": "", "function": "Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains., [UniProtKB, UniProtKB, UniProtKB]; Functional studies of the mouse homolog, [RefSeq, PubMed, PubMed]; Results show that endogenous levels of Pkig reciprocally regulate osteoblast and adipocyte differentiation and that this reciprocal regulation is mediated in part by LIF., [RefSeq, PubMed]; These results indicate that the downregulation of PKIgamma may be prerequisite for the PKA activation during the osteoblastic differentiation of precursor cells., [RefSeq, PubMed]; This gene encodes a member of the protein kinase inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive cAMP-dependent protein kinase inhibitor, and is a predominant form of inhibitor in various tissues. The encoded protein may be involved in osteogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0004862 cAMP-dependent protein kinase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9Y2B9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VZ66-1", "uniprot_id": [ { "id": "JKIP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VZ66", "type": "external" } ], "mass": 98529.0, "length": 844, "protein_name": "Janus kinase and microtubule-interacting protein 3", "gene_name": "JAKMIP3", "organism": "Human", "refseq_name": "janus kinase and microtubule-interacting protein 3 isoform e", "refseq_ac": [ { "id": "NP_001098991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098991", "type": "external" } ], "gene_names_uniprotkb": "JAKMIP3; C10orf14; C10orf39; JAMIP3; NECC2", "gene_names_refseq": "C10orf14; C10orf39; JAKMIP3; Jamip3; NECC2; bA140A10.5", "protein_names_uniprotkb": "Janus kinase and microtubule-interacting protein 3; Neuroendocrine long coiled-coil protein 2", "protein_names_refseq": "janus kinase and microtubule-interacting protein 3 isoform e; janus kinase and microtubule-interacting protein 3; neuroendocrine long coiled-coil 2; neuroendocrine long coiled-coil protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:282973)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;16385451;16959974;17572408;23481700;29493099;29557506;31844290;32502341;33141586;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6PW00;Q69YM6;Q6ZT29", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0019900 kinase binding", "go_cellular_component": "GO:0005794 Golgi apparatus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5VZ66-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6H9L7-1", "uniprot_id": [ { "id": "ISM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6H9L7", "type": "external" } ], "mass": 63906.0, "length": 571, "protein_name": "Isthmin-2", "gene_name": "ISM2", "organism": "Human", "refseq_name": "isthmin-2 isoform 3 precursor", "refseq_ac": [ { "id": "NP_872315", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872315", "type": "external" } ], "gene_names_uniprotkb": "ISM2; PSEC0137; TAIL1; THSD3", "gene_names_refseq": "ISM2; TAIL1; THSD3", "protein_names_uniprotkb": "Isthmin-2; Thrombospondin and AMOP domain-containing isthmin-like protein 1; Thrombospondin type-1 domain-containing protein 3", "protein_names_refseq": "isthmin 2 homolog; isthmin-2 isoform 3 precursor; thrombospondin and AMOP containing isthmin-like 1; thrombospondin and AMOP domain-containing isthmin-like protein 1; thrombospondin type-1 domain-containing protein 3; thrombospondin, type I, domain containing 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:145501)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;15194193;16303743;23584533;24714562;26992070;35051231", "class_list": "", "function": "TAIL1 gene is located on chromosome 14q24.3 within ARVD1 (arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 1) critical region; preliminary evidence suggests that it is expressed in several tissues, showing multiple alternative splicing., [RefSeq, PubMed]; The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "A8K6D5;O95432;Q495U5;Q68CN3;Q86TQ7;Q86TW3;Q86TW4;Q8N501;Q8NBL0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q6H9L7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6KB66-1", "uniprot_id": [ { "id": "K2C80_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6KB66", "type": "external" } ], "mass": 50525.0, "length": 452, "protein_name": "Keratin, type II cytoskeletal 80", "gene_name": "KRT80", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 80 isoform K80.1", "refseq_ac": [ { "id": "NP_001074961", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074961", "type": "external" } ], "gene_names_uniprotkb": "KRT80; KB20", "gene_names_refseq": "KB20; KRT80", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 80; CK-80; Cytokeratin-80; K80; Keratin-80; Type-II keratin Kb20", "protein_names_refseq": "CK-80; K80; cytokeratin-80; keratin 80, type II; keratin b20; keratin, type II cytoskeletal 80 isoform K80.1; keratin, type II cytoskeletal 80; type II keratin; type-II keratin Kb20", "tax_id": 9606, "disease": "", "pathway": " (hsa:144501); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15373777;15737194;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18212344;18669648;18691976;18843291;19190773;19194479;20068231;20112406;20179351;20657595;20667819;20843789;20940292;21439340;21654840;21997417;23186163;23481192;23481700;23629652;2414304;25208914;25926655;26390218;26853435;29393594;29557506;29786170;29789417;30484775;31217245;31844290;32488085;32897882;32938616;33968037;33981976;34087483;35051231;35748914;36010968;36215666;37129345;37211956;37782686;38241178;38665916;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "Alternative splice variants, K80 and K80.1 distribute differently in epithelia of hair and skin., [RefSeq, PubMed]; Characters of KRT80 and its roles in neoplasms diseases. Review article, [RefSeq, PubMed]; KRT80 expression works as a biomarker and a target for differentiation in gastric cancer., [RefSeq, PubMed]; Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010]., [RefSeq]; LINC01485 contributes to colorectal cancer progression by targeting miR-383-5p/KRT80 axis., [RefSeq, PubMed]; MiR-4268 suppresses gastric cancer genesis through inhibiting keratin 80., [RefSeq, PubMed]; The facilitating effects of KRT80 on chemoresistance, lipogenesis, and invasion of esophageal cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "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": "Q6P1A5;Q7Z3Q0", "ec_number_list": [], "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005882 intermediate filament;GO:0045111 intermediate filament cytoskeleton;GO:0045095 keratin filament", "go_biological_process": "GO:0031424 keratinization;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q6KB66-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NXS1-1", "uniprot_id": [ { "id": "IPP2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NXS1", "type": "external" } ], "mass": 23106.0, "length": 205, "protein_name": "Protein phosphatase inhibitor 2 family member B", "gene_name": "PPP1R2B", "organism": "Human", "refseq_name": "protein phosphatase inhibitor 2 family member B", "refseq_ac": [ { "id": "NP_996740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_996740", "type": "external" } ], "gene_names_uniprotkb": "PPP1R2B; PPP1R2P3", "gene_names_refseq": "PPP1R2B; PPP1R2P3", "protein_names_uniprotkb": "Protein phosphatase inhibitor 2 family member B; PPP1R2 family member B; Protein phosphatase 1, regulatory subunit 2 pseudogene 3; Protein phosphatase inhibitor 2-like protein 3", "protein_names_refseq": "protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 3; protein phosphatase 1, regulatory subunit 2 pseudogene 3; protein phosphatase inhibitor 2 family member B; protein phosphatase inhibitor 2-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:153743)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "21382349;23301498;23506001;29557506;32157095;32502341;32897882;32938616;32983136;35513511;36010968;39534244", "class_list": "", "function": "Inhibitor of protein-phosphatase 1., [UniProtKB, PubMed]; PPP1R2P3 protein binds directly to PPP1CC and that this inhibitor cannot be phosphorylated by GSK3. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "G1AUC5", "ec_number_list": [], "go_molecular_function": "GO:0004864 protein phosphatase inhibitor activity", "go_cellular_component": "", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0005977 glycogen metabolic process;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q6NXS1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVL6-1", "uniprot_id": [ { "id": "K154L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVL6", "type": "external" } ], "mass": 198999.0, "length": 1849, "protein_name": "UPF0606 protein KIAA1549L", "gene_name": "KIAA1549L", "organism": "Human", "refseq_name": "UPF0606 protein KIAA1549L isoform 1", "refseq_ac": [ { "id": "NP_036326", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036326", "type": "external" } ], "gene_names_uniprotkb": "KIAA1549L; C11orf41; C11orf69", "gene_names_refseq": "C11orf41; C11orf69; G2; KIAA1549L", "protein_names_uniprotkb": "UPF0606 protein KIAA1549L", "protein_names_refseq": "UPF0606 protein C11orf41; UPF0606 protein KIAA1549L isoform 1; uncharacterized protein C11orf69", "tax_id": 9606, "disease": "", "pathway": " (hsa:25758)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;23584533;28657654;28904123;29192581;29557506;30429286;30459171;30573663;30784271;31092671;31154438;31844290;32350084;32387766;32488085;36215666", "class_list": "", "function": "Four variants in KIAA1549 like (KIAA1549L), a gene previously associated with attempted suicide in bipolar patients, were suggestively associated with being an owl at p < 1.82E-05; post hoc analyses showed the top variant trending in both the Mexican Americans and American Indians cohorts at p = 2.50E-05 and p = .030, respectively, [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": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "B0QYU0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q6ZVL6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z418-1", "uniprot_id": [ { "id": "KCNKI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z418", "type": "external" } ], "mass": 43671.0, "length": 384, "protein_name": "Potassium channel subfamily K member 18", "gene_name": "KCNK18", "organism": "Human", "refseq_name": "potassium channel subfamily K member 18", "refseq_ac": [ { "id": "NP_862823", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_862823", "type": "external" } ], "gene_names_uniprotkb": "KCNK18; TRESK; TRIK", "gene_names_refseq": "K2p18.1; KCNK18; MGR13; TRESK-2; TRESK2; TRESK; TRIK", "protein_names_uniprotkb": "Potassium channel subfamily K member 18; TWIK-related individual potassium channel; TWIK-related spinal cord potassium channel", "protein_names_refseq": "TWIK-related individual K+ channel; TWIK-related individual potassium channel; TWIK-related spinal cord K+ channel; TWIK-related spinal cord potassium channel; potassium channel subfamily K member 18; potassium channel, subfamily K, member 18; potassium channel, two pore domain subfamily K, member 18", "tax_id": 9606, "disease": "heart conduction disease (Disease Ontology:DOID:10273); heart disease (Disease Ontology:DOID:114); epilepsy (Disease Ontology:DOID:1826); migraine (Disease Ontology:DOID:6364); migraine, with or without aura, susceptibility to, 13 (MONDO:MONDO:0013344)", "pathway": " (hsa:338567); (R-HSA-1299344); (R-HSA-5576886)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "12754259;14981085;15123670;15562060;15795311;16382106;17652773;17962323;18397886;20006580;20393194;20871611;22355750;26919430;28228285;29557506;29632711;30573346;31844290;31937595;32387766;32394190;32488085;32717813;33141586;33392160;33525904;33968037;34199759;34509645;34702947;35051231;36010968;36215666;36426390;37195340", "class_list": "", "function": "Altered functional properties of a missense variant in the TRESK K(+) channel (KCNK18) associated with migraine and intellectual disability., [RefSeq, PubMed]; Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus., [RefSeq, PubMed]; K(+) channel that conducts outward and inward rectifying currents at depolarized and hyperpolarized membrane potentials, respectively. The outward rectifying currents are voltage-dependent, coupled to K(+) electrochemical gradient across the membrane, whereas the inward currents can be induced in response to activation of Ca(2+)-mobilizing receptors (PubMed:12754259, PubMed:15562060, PubMed:20871611, PubMed:22355750, PubMed:26919430, PubMed:30573346). Homo- and heterodimerizes to form functional channels with distinct regulatory and gating properties. In trigeminal ganglia sensory neurons, the heterodimers of KCNK18/TRESK and KCNK2/TREK-1 or KCNK10/TREK-2 inhibit neuronal firing and neurogenic inflammation by stabilizing the resting membrane potential at K(+) equilibrium potential as well as by regulating the threshold of action potentials and the spike frequency (By similarity). In thymocytes, conducts K(+) currents upon T cell receptor (TCR) signaling leading to sustained Ca(2+) influx and NF-kappa-B activation, FOXP3 transcription and positive selection of regulatory T cell (Treg) progenitor subsets (PubMed:34702947). Appears to mediate the analgesics effects of hydroxy-alpha-sanshool, a metabolite naturally present in Schezuan pepper and other Xanthoxylum plants (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity. Publication Status: Online-Only, [RefSeq, PubMed]; Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011]., [RefSeq]; TRESK background potassium channel modifies the TRPV1-mediated nociceptor excitability in sensory neurons., [RefSeq, PubMed]; TRESK is a novel two-pore domain K+ channel that may set the resting membrane potential of cells in the spinal cord, [RefSeq, PubMed]; TRESK is activated by increased cytoplasmic calcium concentration, calcineurin being involved in the regulation; Serine 276 was identified as the major functional target of calcineurin in TRESK, [RefSeq, PubMed]; TRESK-2 is a functional member of the K(2P) channel family and contributes to the background K+ conductance in many types of cells [TRESK-2], [RefSeq, PubMed]; The Background K(+) Channel TRESK in Sensory Physiology and Pain. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5SQQ8", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0015271 outward rectifier potassium channel activity;GO:0022841 potassium ion leak channel activity;GO:0046872 metal ion binding;GO:0015269 calcium-activated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006813 potassium ion transport;GO:0071467 cellular response to pH;GO:0071805 potassium ion transmembrane transport;GO:0097623 potassium ion export across plasma membrane;GO:0032829 regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q7Z418-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IV33-1", "uniprot_id": [ { "id": "K0825_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IV33", "type": "external" } ], "mass": 147735.0, "length": 1275, "protein_name": "Uncharacterized protein KIAA0825", "gene_name": "KIAA0825", "organism": "Human", "refseq_name": "uncharacterized protein KIAA0825 isoform 2", "refseq_ac": [ { "id": "NP_775936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775936", "type": "external" } ], "gene_names_uniprotkb": "KIAA0825; C5orf36", "gene_names_refseq": "C5orf36; KIAA0825; PAPA10", "protein_names_uniprotkb": "Uncharacterized protein KIAA0825", "protein_names_refseq": "uncharacterized protein KIAA0825 isoform 2", "tax_id": 9606, "disease": "polydactyly, postaxial, type a10 (MONDO:MONDO:0032785)", "pathway": " (hsa:285600)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;27381092;28411811;29242379;29393594;29557506;30315122;30429286;30982135;31154438;32147526;32157095;32161166;32387766;35051231;35580925;35886013;36010968;37107627;37217939;37938771", "class_list": "", "function": "Disruption of the orphan receptor ESRRG and disruption of KIAA0825 identified in a subject with hearing loss and mild developmental delay., [RefSeq, PubMed]; Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A., [RefSeq, PubMed]; Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A088AWM3;O94914;Q6ZNN2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8IV33-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WZA9-1", "uniprot_id": [ { "id": "IRGQ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WZA9", "type": "external" } ], "mass": 62717.0, "length": 623, "protein_name": "Immunity-related GTPase family Q protein", "gene_name": "IRGQ", "organism": "Human", "refseq_name": "immunity-related GTPase family Q protein", "refseq_ac": [ { "id": "NP_001007562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007562", "type": "external" } ], "gene_names_uniprotkb": "IRGQ; FKSG27; IRGQ1", "gene_names_refseq": "FKSG27; IRGQ1; IRGQ", "protein_names_uniprotkb": "Immunity-related GTPase family Q protein", "protein_names_refseq": "immunity-related GTPase family Q protein; immunity-related GTPase family, Q1", "tax_id": 9606, "disease": "", "pathway": " (hsa:126298)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "18669648;23301498;25502872;28467828;32350084;32502341;32938616;33141586;33592498;34357683;35051231;35154160;35251023;35494241;38665916;39481378", "class_list": "", "function": "Autophagy receptor that specifically promotes clearance of misfolded MHC class I molecules by targeting them to the lysosome for degradation (PubMed:39481378). Acts as a molecular adapter that specifically recognizes and binds (1) misfolded MHC class I molecules following their ubiquitination, as well as (2) autophagy-related proteins, promoting the recruitment of misfolded MHC class I molecules to autophagy machinery for degradation (PubMed:39481378). Degradation of misfolded MHC class I molecules is essential to prevent accumulation of defective MHC class I complexes at the surface of CD8(+) T-cells and prevent a stronger T-cell-mediated response (PubMed:39481378). In contrast to other members of the family, does not show GTPase activity (PubMed:39481378)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RNP3", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005764 lysosome;GO:0031410 cytoplasmic vesicle;GO:0005776 autophagosome", "go_biological_process": "GO:0010508 positive regulation of autophagy;GO:0061753 substrate localization to autophagosome;GO:0006515 protein quality control for misfolded or incompletely synthesized proteins", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8WZA9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92833-1", "uniprot_id": [ { "id": "JARD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92833", "type": "external" } ], "mass": 138734.0, "length": 1246, "protein_name": "Protein Jumonji", "gene_name": "JARID2", "organism": "Human", "refseq_name": "protein Jumonji isoform 2", "refseq_ac": [ { "id": "NP_001253969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001253969", "type": "external" } ], "gene_names_uniprotkb": "JARID2; JMJ", "gene_names_refseq": "DIDDF; JARID2; JMJ", "protein_names_uniprotkb": "Protein Jumonji; Jumonji/ARID domain-containing protein 2", "protein_names_refseq": "jumonji homolog; jumonji, AT rich interactive domain 2; jumonji-like protein; jumonji/ARID domain-containing protein 2; protein Jumonji isoform 2; protein Jumonji", "tax_id": 9606, "disease": "autistic disorder (Disease Ontology:DOID:12849); aortic valve stenosis (Disease Ontology:DOID:1712); developmental delay with variable intellectual disability and dysmorphic facies (MONDO:MONDO:0859306)", "pathway": " (hsa:3720); (R-HSA-212300)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "12351676;12435631;15099518;16357870;16431907;18974356;19026781;19571010;19608861;19664994;19664995;20075857;20123894;20937877;20974918;21170310;21406692;22323599;22466170;23186163;23326524;23431328;23679895;24074865;25548167;25645385;26154972;26992070;27846572;27920218;28832583;28834231;28904123;29242379;29393594;29493099;29499137;29557506;29632046;30429286;30524438;30779550;30923826;31086175;31154438;31844290;31848261;31959557;32157095;32387766;32897882;32938616;32983136;33298915;33592498;33717175;33912179;33968037;34087483;34171305;34932366;35051231;35318648;35580925;35887345;36010968;36241641;36284347;36471281;36640627;37309591;37353042;37762546;8894700", "class_list": "", "function": "Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature. Publication Status: Online-Only, [RefSeq, PubMed]; Integrated bioinformatics and experimental validation reveal the role of JARID2 in ovarian cancer., [RefSeq, PubMed]; JARID2 and EZH2, the eminent epigenetic drivers in human cancer. Review article, [RefSeq, PubMed]; JARID2 is essential for the binding of PcG proteins to target genes and, consistent with this, for the proper differentiation of embryonic stem cells and normal development, [RefSeq, PubMed]; JARID2 regulates epithelial mesenchymal transition through the PTEN/AKT signalling pathways in ovarian endometriosis., [RefSeq, PubMed]; Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis (PubMed:20075857). Acts as an accessory subunit for the core PRC2 (Polycomb repressive complex 2) complex, which mediates histone H3K27 (H3K27me3) trimethylation on chromatin (PubMed:20075857, PubMed:29499137, PubMed:31959557). Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells, thereby playing a key role in stem cell differentiation and normal embryonic development (PubMed:20075857). In cardiac cells, it is required to repress expression of cyclin-D1 (CCND1) by activating methylation of 'Lys-9' of histone H3 (H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases (By similarity). Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5 (By similarity). Participates in the negative regulation of cell proliferation signaling (By similarity). Does not have histone demethylase activity (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The LINC00852/miR-29a-3p/JARID2 axis regulates the proliferation and invasion of prostate cancer cell. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K9Z6;B7Z5S5;B7Z8L0;Q5U5L5;Q86X63", "ec_number_list": [], "go_molecular_function": "GO:0061649 ubiquitin-modified histone reader activity;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0043130 ubiquitin binding;GO:0046976 histone H3K27 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0035098 ESC/E(Z) complex;GO:0035097 histone methyltransferase complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0048863 stem cell differentiation;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q92833-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AZ6-1", "uniprot_id": [ { "id": "ISG20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AZ6", "type": "external" } ], "mass": 20363.0, "length": 181, "protein_name": "Interferon-stimulated gene 20 kDa protein", "gene_name": "ISG20", "organism": "Human", "refseq_name": "interferon-stimulated gene 20 kDa protein isoform a", "refseq_ac": [ { "id": "NP_001290162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290162", "type": "external" } ], "gene_names_uniprotkb": "ISG20; HEM45", "gene_names_refseq": "CD25; HEM45; ISG20", "protein_names_uniprotkb": "Interferon-stimulated gene 20 kDa protein; 3.1.13.1; Estrogen-regulated transcript 45 protein; Promyelocytic leukemia nuclear body-associated protein ISG20", "protein_names_refseq": "estrogen-regulated transcript 45 protein; interferon stimulated exonuclease gene 20kDa; interferon-stimulated gene 20 kDa protein isoform a; interferon-stimulated gene 20 kDa protein; promyelocytic leukemia nuclear body-associated protein ISG20", "tax_id": 9606, "disease": "", "pathway": " (hsa:3669); (R-HSA-909733)", "pathway_count": 2, "publication_count": 119, "publication_id_list": "10395669;10542297;10982844;11092454;11237011;11337497;11377645;11401564;11404376;11585831;12029096;12594219;12766484;12842042;14769151;15047845;15312780;15449939;15527770;15778442;16009940;16033969;16171819;16514659;16987978;17251292;1730654;17351669;17445960;17969444;18035202;18575461;20130243;20363976;20643137;21036379;2211721;23061660;23121362;24417533;24714562;25371710;25469497;25880248;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28467828;28832583;28834231;28904123;29242379;29493099;29632046;29786170;30315122;30485383;31600344;31844290;31848261;31998317;32032529;32113509;32157095;32265295;32357974;32488085;32511913;32574262;32661006;32758689;32862111;32938616;32983136;33117408;33189161;33193462;33298915;33396578;33592498;33912179;34185709;34211107;34357683;34932366;35051231;35154160;35580925;37340981;37342328;37731506;38685521;39073688;6162102;6548414;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8702790;9096384;9121453;9235947;9242679;9334213;9569007;9660177;9847332;9861020", "class_list": "", "function": "Causal relationships between CD25 on immune cells and hip osteoarthritis. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of interferon-stimulated gene 20 (ISG20), an antiviral effector protein, in glomerular endothelial cells: possible involvement of ISG20 in lupus nephritis., [RefSeq, PubMed]; FOSL2-mediated transcription of ISG20 induces M2 polarization of macrophages and enhances tumorigenic ability of glioblastoma cells., [RefSeq, PubMed]; ISG20 stimulates anti-tumor immunity via a double-stranded RNA-induced interferon response in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon-induced antiviral exoribonuclease that acts mainly on single-stranded RNA (PubMed:11401564, PubMed:12594219, PubMed:16033969). Exhibits antiviral activity against RNA viruses including hepatitis C virus (HCV), hepatitis A virus (HAV) and yellow fever virus (YFV) (PubMed:16514659, PubMed:21036379). Inhibition of several viruses such as chikungunya virus (CHIKV) does not involve the degradation of viral RNAs, but rather the inhibition of translation of viral proteins (By similarity). Exerts a translational control over a large panel of non-self RNA substrates while sparing endogenous transcripts. This activity correlates with the protein's ability to localize in cytoplasmic processing bodies (PubMed:31600344). May also act as master regulator of over hundred interferon stimulated genes leading to viral genome translation inhibition (By similarity). May play additional roles in the maturation of snRNAs and rRNAs, and in ribosome biogenesis (PubMed:16514659)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The PTPRZ1-MET/STAT3/ISG20 axis in glioma stem-like cells modulates tumor-associated macrophage polarization., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "O00441;O00586", "ec_number_list": [ { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "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": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "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": "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:0008310 single-stranded DNA 3'-5' DNA exonuclease activity;GO:0008859 exoribonuclease II activity;GO:0030620 U2 snRNA binding;GO:0046872 metal ion binding;GO:0004527 exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0000932 P-body", "go_biological_process": "GO:0006396 RNA processing;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0045071 negative regulation of viral genome replication;GO:0009615 response to virus", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q96AZ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MG2-1", "uniprot_id": [ { "id": "JSPR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MG2", "type": "external" } ], "mass": 36319.0, "length": 331, "protein_name": "Junctional sarcoplasmic reticulum protein 1", "gene_name": "JSRP1", "organism": "Human", "refseq_name": "junctional sarcoplasmic reticulum protein 1", "refseq_ac": [ { "id": "NP_653217", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653217", "type": "external" } ], "gene_names_uniprotkb": "JSRP1; JP45", "gene_names_refseq": "JP-45; JP45; JSRP1", "protein_names_uniprotkb": "Junctional sarcoplasmic reticulum protein 1; JP-45; Junctional-face membrane protein of 45 kDa homolog", "protein_names_refseq": "2310032K21Rik; homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45; junctional sarcoplasmic reticulum protein 1; junctional-face membrane protein of 45 kDa homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:126306)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "16423849;20442750;22927026;24715725;25576301;26992070;28904123;31844290;32938616;33141586;33298915;33912179;33936100;34561969", "class_list": "", "function": "Data indicate that the presence of either one of these JP-45 variants decreased the sensitivity of the dihydropyridine receptor DHPR to activation., [RefSeq, PubMed]; Involved in skeletal muscle excitation/contraction coupling (EC), probably acting as a regulator of the voltage-sensitive calcium channel CACNA1S. EC is a physiological process whereby an electrical signal (depolarization of the plasma membrane) is converted into a chemical signal, a calcium gradient, by the opening of ryanodine receptor calcium release channels. May regulate CACNA1S membrane targeting and activity., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012]., [RefSeq]; The results may be explained by a modulatory effect of JP-45 related to its reported in vitro interaction with the dihydropyridine receptor and the SR Ca(2+) binding protein calsequestrin (CSQ)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016529 sarcoplasmic reticulum;GO:0033017 sarcoplasmic reticulum membrane", "go_biological_process": "GO:0003009 skeletal muscle contraction", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q96MG2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BY89-1", "uniprot_id": [ { "id": "K1671_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BY89", "type": "external" } ], "mass": 196711.0, "length": 1806, "protein_name": "Uncharacterized protein KIAA1671", "gene_name": "KIAA1671", "organism": "Human", "refseq_name": "uncharacterized protein KIAA1671 isoform 2", "refseq_ac": [ { "id": "NP_001138678", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138678", "type": "external" } ], "gene_names_uniprotkb": "KIAA1671", "gene_names_refseq": "KIAA1671", "protein_names_uniprotkb": "Uncharacterized protein KIAA1671", "protein_names_refseq": "CTA-221G9.5; uncharacterized protein KIAA1671 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:85379)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;11258795;15289310;18318008;18477386;18669648;20068231;21509594;23186163;24275569;25576301;27846572;28834231;29242379;29393594;29493099;29557506;29632046;30429286;30779550;31154438;31844290;31848261;32157095;32265295;32387766;32488085;32938616;33592498;33912179;33968037;33981976;34171305;35051231;35580925;36215666;36284347;38253038", "class_list": "", "function": "KIAA1671 gene expression is decreased in both classic and follicular variants of papillary thyroid carcinoma., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 37, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "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": "B0QYF2;B7ZW08;Q5THZ5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9BY89-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZI1-1", "uniprot_id": [ { "id": "IRX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZI1", "type": "external" } ], "mass": 49129.0, "length": 471, "protein_name": "Iroquois-class homeodomain protein IRX-2", "gene_name": "IRX2", "organism": "Human", "refseq_name": "iroquois-class homeodomain protein IRX-2", "refseq_ac": [ { "id": "NP_001127694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127694", "type": "external" } ], "gene_names_uniprotkb": "IRX2; IRXA2", "gene_names_refseq": "IRX2; IRXA2", "protein_names_uniprotkb": "Iroquois-class homeodomain protein IRX-2; Homeodomain protein IRXA2; Iroquois homeobox protein 2", "protein_names_refseq": "homeodomain protein IRXA2; iroquois homeobox protein 2; iroquois-class homeodomain protein IRX-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:153572); (R-HSA-9831926)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "11435706;15133517;16752383;18421076;21406692;25576301;26062523;26560478;27600516;29786170;32422864;32488085;34087483;35051231;38253038", "class_list": "", "function": "IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]., [RefSeq]; IRX2 modulates the expression levels of MMP2 and VEGF in an AKTdependent manner., [RefSeq, PubMed]; IRX2 represents a candidate target of 5p amplifications in soft tissue sarcomas and might play a crucial role during the progression of this disease., [RefSeq, PubMed]; IRX2 transcription factor might represent a novel metastasis associated protein that acts as a negative regulator of cellular motility and as a repressor of chemokine expression and loss of IRX2 expression could therefore contribute to early hematogenous dissemination of breast cancer by sustaining chemokine secretion and enabling mobilization of tumor cells. Publication Status: Online-Only, [RefSeq, PubMed]; Iroquois Homeobox Protein 2 Identified as a Potential Biomarker for Parkinson's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q68A19;Q7Z2I7", "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:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0072086 specification of loop of Henle identity;GO:0072272 proximal/distal pattern formation involved in metanephric nephron development;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9BZI1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8X2-1", "uniprot_id": [ { "id": "IPPK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8X2", "type": "external" } ], "mass": 56017.0, "length": 491, "protein_name": "Inositol-pentakisphosphate 2-kinase", "gene_name": "IPPK", "organism": "Human", "refseq_name": "inositol-pentakisphosphate 2-kinase", "refseq_ac": [ { "id": "NP_073592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073592", "type": "external" } ], "gene_names_uniprotkb": "IPPK; C9orf12", "gene_names_refseq": "C9orf12; INSP5K2; IP5K; IPK1; IPPK; bA476B13.1", "protein_names_uniprotkb": "Inositol-pentakisphosphate 2-kinase; 2.7.1.158; IPK1 homolog; Inositol-1,3,4,5,6-pentakisphosphate 2-kinase; Ins(1,3,4,5,6)P5 2-kinase; InsP5 2-kinase", "protein_names_refseq": "IPK1 homolog; inositol 1,3,4,5,6-pentakisphosphate 2-kinase; inositol-pentakisphosphate 2-kinase; ins(1,3,4,5,6)P5 2-kinase; insP5 2-kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:64768); (R-HSA-1855167); (R-HSA-1855191)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10419486;10585413;10777568;10827188;11042108;11237011;11502751;11909533;12027805;12084730;12105228;12121577;12223481;15967797;16293229;17412958;17690096;17702752;17705785;18355727;18981179;22119861;23186163;23481700;24165122;24714562;25576301;26375851;26976604;26992070;27600516;27862975;27920218;28228285;28832583;28904123;29242379;29493099;29746542;29786170;30132343;30429286;30484775;30833945;31154438;31217245;31222486;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33298915;34087483;34171305;35051231;36010968;9822604", "class_list": "", "function": "Higher urine IPP2K/Cr is associated with less severe kidney lesions at baseline and with preservation of kidney structure over 5 yr in individuals with type 1 diabetes and no clinical evidence of DKD at baseline., [RefSeq, PubMed]; IP6 synthase, Ins(1,3,4,5,6)P5 2-kinase (IPPK/IP5K) binds to cullins. Depleting IP5K increases the percentage of neddylated, active Cul1 and Cul4A, and decreases levels of the Cul1/4A substrates p27 and p21., [RefSeq, PubMed]; IPK1 substrate selection is linked to the ability of each potential substrate to stabilize IPK1., [RefSeq, PubMed]; Identified a genomic DNA sequence on chromosome 9 that encodes inositol 1,3,4,5,6-pentakisphosphate 2-kinase; characterization of the enzyme, [RefSeq, PubMed]; Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation. It also protects cells from TNF-induced apoptosis., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]., [RefSeq]; These results imply that DBP5, GLE1 and IP6 have a conserved and individual function in the cytoplasmic mRNA expression. Variations in phenotype are due to the difference in each function of DBP5, GLE1 and IPPK in intracellular mRNA metabolism. Erratum:[PLoS One. 2019 Jul 25;14(7):e0220511. doi: 10.1371/journal.pone.0220511. PMID: 31344122] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T9F7;Q9H7V8", "ec_number_list": [ { "id": "2.7.1.158", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.158", "type": "external" } ], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0035299 inositol-1,3,4,5,6-pentakisphosphate 2-kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:1901838 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I;GO:0043647 inositol phosphate metabolic process;GO:0032958 inositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9H8X2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HB14-1", "uniprot_id": [ { "id": "KCNKD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HB14", "type": "external" } ], "mass": 45391.0, "length": 408, "protein_name": "Potassium channel subfamily K member 13", "gene_name": "KCNK13", "organism": "Human", "refseq_name": "potassium channel subfamily K member 13", "refseq_ac": [ { "id": "NP_071337", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071337", "type": "external" } ], "gene_names_uniprotkb": "KCNK13", "gene_names_refseq": "K2p13.1; KCNK13; THIK-1; THIK1", "protein_names_uniprotkb": "Potassium channel subfamily K member 13; THIK-1; Tandem pore domain halothane-inhibited potassium channel 1", "protein_names_refseq": "K2P13.1 potassium channel; potassium channel subfamily K member 13; potassium channel, subfamily K, member 13; potassium channel, two pore domain subfamily K, member 13; tandem pore domain halothane-inhibited potassium channel 1; tandem pore domain potassium channel THIK-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56659); (R-HSA-1299287); (R-HSA-5576886)", "pathway_count": 3, "publication_count": 23, "publication_id_list": "11060316;15795311;16382106;16683720;17652773;18209473;18491316;18516069;20393194;23481700;24163367;25148687;27566292;30472253;31324691;32938616;35051231;37099539;38409076;40011745;40011746;40178898;40307591", "class_list": "", "function": "Dysregulation of a potassium channel, THIK-1, targeted by caspase-8, accelerates cell shrinkage., [RefSeq, PubMed]; Expression in cell hypoxia, [RefSeq, PubMed]; In cell and tissues co-expressing THIK1 and THIK2, heterodimeric channels may contribute to cell excitability., [RefSeq, PubMed]; K(+) channel that conducts outward rectifying tonic currents potentiated by purinergic signals (PubMed:24163367, PubMed:25148687, PubMed:30472253, PubMed:38409076). Homo- and heterodimerizes to form functional channels with distinct regulatory and gating properties (PubMed:25148687, PubMed:40011745, PubMed:40011746, PubMed:40307591, PubMed:40178898). Contributes most of K(+) currents at the plasma membrane of resting microglia (PubMed:38409076). Maintains a depolarized membrane potential required for proper ramified microglia morphology and phagocytosis, selectively mediating microglial pruning of presynaptic compartments at hippocampal excitatory synapses (PubMed:38409076). Upon local release of ATP caused by neuronal injury or infection, it is potentiated by P2RY12 and P2RX7 receptor signaling and contributes to ATP-triggered K(+) efflux underlying microglial NLRP3 inflammasome assembly and IL1B release (PubMed:38409076)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013]., [RefSeq]; Regulation of the two-pore domain potassium channel, THIK-1 and THIK-2, by G protein coupled receptors. Publication Status: Online-Only, [RefSeq, PubMed]; THIK-1 and THIK-2 are abundantly expressed in the proximal and distal nephron of the mammalian kidney., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 1, "reported_mutagensis": 7, "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": "B5TJL8;Q96E79", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0015271 outward rectifier potassium channel activity;GO:0022841 potassium ion leak channel activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:1900225 regulation of NLRP3 inflammasome complex assembly;GO:0060075 regulation of resting membrane potential;GO:0071805 potassium ion transmembrane transport;GO:1905810 regulation of excitatory synapse pruning", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9HB14-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HB15-1", "uniprot_id": [ { "id": "KCNKC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HB15", "type": "external" } ], "mass": 46889.0, "length": 430, "protein_name": "Potassium channel subfamily K member 12", "gene_name": "KCNK12", "organism": "Human", "refseq_name": "potassium channel subfamily K member 12", "refseq_ac": [ { "id": "NP_071338", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071338", "type": "external" } ], "gene_names_uniprotkb": "KCNK12", "gene_names_refseq": "K2p12.1; KCNK12; THIK-2; THIK2", "protein_names_uniprotkb": "Potassium channel subfamily K member 12; THIK-2; Tandem pore domain halothane-inhibited potassium channel 2", "protein_names_refseq": "potassium channel subfamily K member 12; potassium channel, subfamily K, member 12; potassium channel, two pore domain subfamily K, member 12; tandem pore domain halothane-inhibited potassium channel 2; tandem pore domain potassium channel THIK-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56660); (R-HSA-5576886)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "11060316;15795311;16382106;17081983;17652773;18209473;18676988;20393194;23481700;24163367;25148687;26992070;27846572;29393594;29632046;30524438;33141586;35051231;37099539", "class_list": "", "function": "In cell and tissues co-expressing THIK1 and THIK2, heterodimeric channels may contribute to cell excitability., [RefSeq, PubMed]; K(+) channel subunit that may homo- and heterodimerize to form functional channels with distinct regulatory and gating properties. Can heterodimerize with KCNK13 subunit to conduct K(+) outward rectifying currents at the plasma membrane. The homodimers are mainly retained in the endoplasmic reticulum compartment and may be targeted to the cell surface upon phosphorylation or other activation signals yet to be elucidated., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Regulation of the two-pore domain potassium channel, THIK-1 and THIK-2, by G protein coupled receptors. Publication Status: Online-Only, [RefSeq, PubMed]; THIK-1 and THIK-2 are abundantly expressed in the proximal and distal nephron of the mammalian kidney., [RefSeq, PubMed]; The cytoplasmic amino-terminal region of THIK2 (Nt-THIK2) contains an arginine-rich motif (RRSRRR) that acts as a retention/retrieval signal., [RefSeq, PubMed]; This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 13, "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": "", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0015271 outward rectifier potassium channel activity;GO:0022841 potassium ion leak channel activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9HB15-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPC2-1", "uniprot_id": [ { "id": "KCNK9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPC2", "type": "external" } ], "mass": 42264.0, "length": 374, "protein_name": "Potassium channel subfamily K member 9", "gene_name": "KCNK9", "organism": "Human", "refseq_name": "potassium channel subfamily K member 9 precursor", "refseq_ac": [ { "id": "NP_001269463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269463", "type": "external" } ], "gene_names_uniprotkb": "KCNK9; TASK3", "gene_names_refseq": "BIBARS; K2p9.1; KCNK9; KT3.2; TASK-3; TASK32; TASK3", "protein_names_uniprotkb": "Potassium channel subfamily K member 9; Acid-sensitive potassium channel protein TASK-3; TWIK-related acid-sensitive K(+) channel 3; Two pore K(+) channel KT3.2; Two pore potassium channel KT3.2", "protein_names_refseq": "TWIK-related acid-sensitive K(+) channel 3; TWIK-related acid-sensitive K+ 3; acid-sensitive potassium channel protein TASK-3; potassium 2-pore domain leak channel TASK3; potassium channel subfamily K member 9 precursor; potassium channel, two pore domain subfamily K, member 9; two pore K(+) channel KT3.2; two pore potassium channel KT3.2", "tax_id": 9606, "disease": "Birk-Barel syndrome (Disease Ontology:DOID:0050675)", "pathway": " (hsa:51305); (R-HSA-1299316); (R-HSA-5576886)", "pathway_count": 3, "publication_count": 27, "publication_id_list": "10747866;11042359;11237011;11431495;12676587;15795311;16382106;17652773;17704508;18678320;18824070;20393194;21357689;22948150;23169818;26919430;27151206;29557506;30524438;30690205;31844290;33592498;35051231;35580925;36613787;38630723;39215006", "class_list": "", "function": "C-type inactivation and proton modulation mechanisms of the TASK3 channel., [RefSeq, PubMed]; K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. Voltage sensing is coupled to K(+) electrochemical gradient in an 'ion flux gating' mode where outward but not inward ion flow opens the gate (PubMed:11042359, PubMed:11431495, PubMed:26919430, PubMed:38630723). Changes ion selectivity and becomes permeable to Na(+) ions in response to extracellular acidification. Protonation of the pH sensor His-98 stabilizes C-type inactivation conformation likely converting the channel from outward K(+)-conducting, to inward Na(+)-conducting to nonconductive state (PubMed:22948150, PubMed:38630723). Homo- and heterodimerizes to form functional channels with distinct regulatory and gating properties (By similarity) (PubMed:23169818, PubMed:38630723). Allows K(+) currents with fast-gating kinetics important for the repolarization and hyperpolarization phases of action potentials (By similarity). In granule neurons, hyperpolarizes the resting membrane potential to limit intrinsic neuronal excitability, but once the action potential threshold is reached, supports high-frequency action potential firing and increased neuronal excitability. Homomeric and/or heteromeric KCNK3:KCNK9 channels operate in cerebellar granule cells, whereas heteromeric KCNK1:KCNK9 enables currents in hippocampal dentate gyrus granule neurons (By similarity). Dispensable for central chemosensory respiration i.e. breathing controlled by brainstem CO2/pH, it rather conducts pH-sensitive currents and controls the firing rate of serotonergic raphe neurons involved in potentiation of the respiratory chemoreflex (By similarity). In retinal ganglion cells, mediates outward currents that regulate action potentials in response to acidification of the synaptic cleft. Involved in transmission of image-forming and nonimage-forming visual information in the retina (By similarity). In adrenal gland, contributes to the maintenance of a hyperpolarized resting membrane potential of aldosterone-producing cells at zona glomerulosa and limits aldosterone release as part of a regulatory mechanism that controls arterial blood pressure and electrolyte homeostasis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB]; KCNK9 gene is imprinted in human and mouse, exhibiting preferential expression from the maternal allele in brain., [RefSeq, PubMed]; Potassium channel TASK-5 forms functional heterodimers with TASK-1 and TASK-3 to break its silence. Publication Status: Online-Only, [RefSeq, PubMed]; Subcellular Localization of Homomeric TASK3 Channels and Its Presumed Functional Significances in Trigeminal Motoneurons. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [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": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 22, "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": "Q2M290;Q540F2", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0015271 outward rectifier potassium channel activity;GO:0022841 potassium ion leak channel activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0007601 visual perception;GO:0006813 potassium ion transport;GO:0060075 regulation of resting membrane potential;GO:1990573 potassium ion import across plasma membrane;GO:0071468 cellular response to acidic pH", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9NPC2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYG8-1", "uniprot_id": [ { "id": "KCNK4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYG8", "type": "external" } ], "mass": 42704.0, "length": 393, "protein_name": "Potassium channel subfamily K member 4", "gene_name": "KCNK4", "organism": "Human", "refseq_name": "potassium channel subfamily K member 4", "refseq_ac": [ { "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019", "type": "external" } ], "gene_names_uniprotkb": "KCNK4; TRAAK", "gene_names_refseq": "FHEIG; K2p4.1; KCNK4; TRAAK1; TRAAK", "protein_names_uniprotkb": "Potassium channel subfamily K member 4; K2P4.1; TRAAK; TWIK-related arachidonic acid-stimulated potassium channel protein; Two pore K(+) channel KT4.1; Two pore potassium channel KT4.1", "protein_names_refseq": "K2P4.1 potassium channel; TWIK-related arachidonic acid-stimulated potassium channel protein; potassium channel subfamily K member 4; potassium channel, subfamily K, member 4; potassium channel, two pore domain subfamily K, member 4; two pore K(+) channel KT4.1; two pore K+ channel KT4.1; two pore potassium channel KT4.1", "tax_id": 9606, "disease": "heart conduction disease (Disease Ontology:DOID:10273); facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome (MONDO:MONDO:0032714)", "pathway": " (hsa:50801); (R-HSA-1299503); (R-HSA-5576886)", "pathway_count": 3, "publication_count": 37, "publication_id_list": "10767409;11042359;11237011;12191490;14759258;15795311;16382106;17652773;19536465;19840997;20133877;20393194;20410120;22282805;23341632;25418920;25471887;25500157;26919430;28693035;30290154;32157095;32387766;32938616;33141586;33537174;33594261;33968037;34211107;34390650;34509645;35051231;35580925;36010968;36241641;37750049;38605031", "class_list": "", "function": "A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management., [RefSeq, PubMed]; Crystal structure of TRAAK at 3.8 angstroms resolution; channel comprises 2 protomers that create 2-fold symmetric K(+) channel; extracellular surface has a helical cap; 2 diagonally opposed gate-forming inner helices form membrane-interacting structures, [RefSeq, PubMed]; Human TASK-3 was cloned and expressed; protein sequence and activity compared to similar two pore domain potassium channels, including KCNK4 (TRAAK)., [RefSeq, PubMed]; K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. Voltage sensing is coupled to K(+) electrochemical gradient in an 'ion flux gating' mode where outward but not inward ion flow opens the gate. Converts to voltage-independent 'leak' conductance mode upon stimulation by various stimuli including mechanical membrane stretch, basic pH, heat and lipids (PubMed:22282805, PubMed:25471887, PubMed:25500157, PubMed:26919430, PubMed:30290154, PubMed:38605031). Homo- and heterodimerizes to form functional channels with distinct regulatory and gating properties (PubMed:26919430). At trigeminal A-beta afferent nerves, the heterodimer of KCNK2/TREK-1 and KCNK4/TRAAK is mostly coexpressed at nodes of Ranvier where it conducts voltage-independent mechanosensitive and thermosensitive currents, allowing rapid action potential repolarization, high speed and high frequence saltatory conduction on myelinated nerves to ensure prompt sensory responses (By similarity). Permeable to other monovalent cations such as Rb(+) and Cs(+) (PubMed:26919430)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Physical basis for distinct basal and mechanically gated activity of the human K(+) channel TRAAK., [RefSeq, PubMed]; Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies., [RefSeq, PubMed]; This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "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": "B5TJL1;Q96T94", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0015271 outward rectifier potassium channel activity;GO:0022841 potassium ion leak channel activity;GO:0097604 temperature-gated cation channel activity;GO:0098782 mechanosensitive potassium channel activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0034705 potassium channel complex;GO:0005886 plasma membrane;GO:0033268 node of Ranvier", "go_biological_process": "GO:0050976 detection of mechanical stimulus involved in sensory perception of touch;GO:0071469 cellular response to alkaline pH;GO:0007613 memory;GO:0019228 neuronal action potential;GO:0019233 sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9NYG8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P055-4", "uniprot_id": [ { "id": "JKAMP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P055", "type": "external" } ], "mass": 35239.0, "length": 311, "protein_name": "JNK1/MAPK8-associated membrane protein", "gene_name": "JKAMP", "organism": "Human", "refseq_name": "JNK1/MAPK8-associated membrane protein isoform 2", "refseq_ac": [ { "id": "NP_001092095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092095", "type": "external" } ], "gene_names_uniprotkb": "JKAMP; C14orf100; CDA06; HSPC213; HSPC327; JAMP", "gene_names_refseq": "C14orf100; C24orf100; CDA06; HSPC213; HSPC327; JAMP; JKAMP; NEDSIL", "protein_names_uniprotkb": "JNK1/MAPK8-associated membrane protein; JAMP; JKAMP; JNK1-associated membrane protein; Medulloblastoma antigen MU-MB-50.4", "protein_names_refseq": "JNK-associated membrane protein; JNK1/MAPK8-associated membrane protein isoform 2; Jun N-terminal kinase 1-associated membrane protein; medulloblastoma antigen MU-MB-50.4", "tax_id": 9606, "disease": "", "pathway": " (hsa:51528)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "10.1101/2023.09.13.557529;11230166;12800201;16166642;18784250;19269966;23481700;23798571;24190977;25173965;25645385;25892735;26375851;28218747;28228285;28514659;28832583;28834231;29242379;29508533;29557506;29769354;29786170;30315122;30524438;31844290;31848261;32157095;32161166;32897882;32938616;32983136;33392160;33592498;33912179;33936100;33968037;33981976;34211107;34357683;34509645;34932366;35051231;35154160;35318648;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "Expression of DP, a receptor largely retained in the ER, promoted proteasome recruitment by JAMP., [RefSeq, PubMed]; Identification and functional characterization of the mouse Jamp ortholog., [RefSeq, PubMed]; JAMP is an important component for coordinated clearance of misfolded proteins from the endoplasmic reticulum., [RefSeq, PubMed]; RNF5 associates with JAMP in the ER membrane. This association results in Ubc13-dependent RNF5-mediated noncanonical ubiquitination of JAMP., [RefSeq, PubMed]; Regulates the duration of MAPK8 activity in response to various stress stimuli (By similarity). Facilitates degradation of misfolded endoplasmic reticulum (ER) proteins through the recruitment of components of the proteasome and endoplasmic reticulum-associated degradation (ERAD) system (PubMed:18784250)., [UniProtKB, PubMed, UniProtKB]; Synergistic function of Jnk1 in haematopoietic cells and hepatocytes might be relevant for the development of chronic liver injury, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DP67;Q6FIB6;Q6IAJ2;Q7Z5D4;Q86SY6;Q9H0Q6;Q9H2W0;Q9HAH5;Q9P0R3", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0036503 ERAD pathway;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9P055-4", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P206-1", "uniprot_id": [ { "id": "NHSL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P206", "type": "external" } ], "mass": 107095.0, "length": 1035, "protein_name": "NHS-like protein 3", "gene_name": "NHSL3", "organism": "Human", "refseq_name": "NHS-like protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001185901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185901", "type": "external" } ], "gene_names_uniprotkb": "NHSL3; KIAA1522", "gene_names_refseq": "KIAA1522; NHSL3", "protein_names_uniprotkb": "NHS-like protein 3", "protein_names_refseq": "NHS-like protein 3 isoform 2; NHS-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:57648)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "16964243;17081983;18220336;18669648;19690332;20068231;20213681;21406692;23186163;23481700;24275569;25576301;26992070;27098511;29557506;30177391;30429286;31848261;32157095;32161166;32387766;32854746;32938616;33592498;33968037;33981976;35051231;35318648;35580925;35730141;36010968;36796013;38520660", "class_list": "", "function": "Able to directly activate the TNF-NFkappaB signaling pathway., [UniProtKB, PubMed]; HOXA cluster antisense RNA 2 elevates KIAA1522 expression through microRNA-520d-3p and insulin like growth factor 2 mRNA binding protein 3 to promote the growth of vascular smooth muscle cells in thoracic aortic aneurysm., [RefSeq, PubMed]; High expression of KIAA1522 can be used as an independent biomarker for predication of poor survival and platinum-resistance of NSCLC patients, and aberrant KIAA1522 might be a new target for the therapy of the disease. Publication Status: Online-Only, [RefSeq, PubMed]; KIAA1522 potentiates TNFalpha-NFkappaB signaling to antagonize platinum-based chemotherapy in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-125b-5p functions as a tumor suppressor and regulates breast cancer cell progression through targeting KIAA1522, [RefSeq, PubMed]; Transcription factor KLF9 inhibits the proliferation, invasion, and migration of pancreatic cancer cells by repressing KIAA1522., [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": 29, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DQU8;B5MDY0;C9JH84;Q8TCQ0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030054 cell junction", "go_biological_process": "GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9P206-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P260-1", "uniprot_id": [ { "id": "RELCH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P260", "type": "external" } ], "mass": 134630.0, "length": 1216, "protein_name": "RAB11-binding protein RELCH", "gene_name": "RELCH", "organism": "Human", "refseq_name": "RAB11-binding protein RELCH isoform a", "refseq_ac": [ { "id": "NP_001333158", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333158", "type": "external" } ], "gene_names_uniprotkb": "RELCH; KIAA1468", "gene_names_refseq": "HsT3308; HsT885; KIAA1468; RELCH", "protein_names_uniprotkb": "RAB11-binding protein RELCH; LisH domain and HEAT repeat-containing protein KIAA1468; RAB11 binding and LisH domain, coiled-coil and HEAT repeat-containing; RAB11-binding protein containing LisH, coiled-coil, and HEAT repeats", "protein_names_refseq": "RAB11-binding protein RELCH isoform a; RAB11-binding protein RELCH; RAB11-binding protein containing LisH, coiled-coil, and HEAT repeats", "tax_id": 9606, "disease": "", "pathway": " (hsa:57614)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11237011;16959974;17081983;18669648;18691976;18767875;19413330;19651622;19664995;20068231;21406692;23186163;23301498;23481700;24275569;24715725;27846572;28510447;29493099;29514919;29557506;30379171;30429286;30833945;31154438;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32938616;32983136;33141586;33298915;33592498;33936100;33968037;34357683;34509645;34932366;35051231;35561310;35580925;36010968;36284347", "class_list": "", "function": "Regulates intracellular cholesterol distribution from recycling endosomes to the trans-Golgi network through interactions with RAB11 and OSBP (PubMed:29514919). Functions in membrane tethering and promotes OSBP-mediated cholesterol transfer between RAB11-bound recycling endosomes and OSBP-bound Golgi-like membranes (PubMed:29514919)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; These data suggest that RELCH promotes nonvesicular cholesterol transport from recycling endosomes to the trans-Golgi network through membrane tethering., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0055037 recycling endosome;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0032367 intracellular cholesterol transport", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9P260-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK76-1", "uniprot_id": [ { "id": "JUPI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK76", "type": "external" } ], "mass": 16015.0, "length": 154, "protein_name": "Jupiter microtubule associated homolog 1", "gene_name": "JPT1", "organism": "Human", "refseq_name": "jupiter microtubule associated homolog 1 isoform 2", "refseq_ac": [ { "id": "NP_001002032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002032", "type": "external" } ], "gene_names_uniprotkb": "JPT1; ARM2; HN1", "gene_names_refseq": "ARM2; HN1A; HN1; JPT1", "protein_names_uniprotkb": "Jupiter microtubule associated homolog 1; Androgen-regulated protein 2; Hematological and neurological expressed 1 protein", "protein_names_refseq": "androgen-regulated protein 2; hematological and neurological expressed 1 protein; jupiter microtubule associated homolog 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51155)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15094197;16602700;17081983;17322306;17924679;18088087;18212344;18452278;18491316;18578522;18669648;18707149;18767875;19145478;19413330;19415658;19608861;19651622;19664994;19664995;19690332;20058876;20068231;20166139;20230923;21323578;21406692;22155408;23186163;24190977;24275569;24715725;25169422;25418920;25450365;25502872;25576301;26154972;26811146;26992070;27920218;28514659;28832583;29242379;29393594;29508533;29557506;30779550;31154438;31217245;31222486;31373491;31530632;31844290;31848261;32157095;32265295;32350084;32488085;32502341;32828320;32938616;32983136;33043033;33123756;33214551;33968037;33981976;34019948;34078123;34171305;34337714;34357683;34561969;35051231;35154160;35318648;35580925;36241641;36403281;36756386;38992849", "class_list": "", "function": "HN1 promotes tumor associated lymphangiogenesis and lymph node metastasis via NF-kappaB signaling activation in cervical carcinoma., [RefSeq, PubMed]; Hematological and neurological expressed 1 (HN1) activates c-Myc signaling by inhibiting ubiquitin-mediated proteasomal degradation of c-Myc in hepatocellular carcinoma., [RefSeq, PubMed]; LncRNA HOXA11-AS promotes cell growth by sponging miR-24-3p to regulate JPT1 in prostate cancer., [RefSeq, PubMed]; Modulates negatively AKT-mediated GSK3B signaling (PubMed:21323578, PubMed:22155408). Induces CTNNB1 'Ser-33' phosphorylation and degradation through the suppression of the inhibitory 'Ser-9' phosphorylation of GSK3B, which represses the function of the APC:CTNNB1:GSK3B complex and the interaction with CDH1/E-cadherin in adherent junctions (PubMed:25169422). Plays a role in the regulation of cell cycle and cell adhesion (PubMed:25169422, PubMed:25450365). Has an inhibitory role on AR-signaling pathway through the induction of receptor proteasomal degradation (PubMed:22155408)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Role of hematological and neurological expressed 1 (HN1) in human cancers. Review article, [RefSeq, PubMed]; These data suggest a role for Hn1 in the biology of malignant brain tumors., [RefSeq, PubMed]; Thirdhand Smoke May Promote Lung Adenocarcinoma Development through HN1. 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": 3, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R6K3;Q53FG7;Q7Z2D2;Q7Z2F0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9UK76-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULG3-1", "uniprot_id": [ { "id": "CFA92_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULG3", "type": "external" } ], "mass": 46740.0, "length": 409, "protein_name": "Uncharacterized protein CFAP92", "gene_name": "CFAP92", "organism": "Human", "refseq_name": "uncharacterized protein CFAP92 isoform d", "refseq_ac": [ { "id": "NP_001335451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335451", "type": "external" } ], "gene_names_uniprotkb": "CFAP92; KIAA1257", "gene_names_refseq": "CFAP92; FAP92; KIAA1257", "protein_names_uniprotkb": "Uncharacterized protein CFAP92; Putative cilia and flagella associated protein 92", "protein_names_refseq": "putative cilia and flagella associated protein 92; uncharacterized protein CFAP92 isoform d", "tax_id": 9606, "disease": "", "pathway": " (hsa:57501)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;18579725;25576301;29557506;30620550;33981976;35051231", "class_list": "", "function": "The gain of function studies indicated that KIAA1257 activate NR5A1 gene expression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8IXY7;Q8N5T4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9ULG3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULL0-1", "uniprot_id": [ { "id": "K1210_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULL0", "type": "external" } ], "mass": 187021.0, "length": 1709, "protein_name": "Acrosomal protein KIAA1210", "gene_name": "KIAA1210", "organism": "Human", "refseq_name": "acrosomal protein KIAA1210 isoform 2", "refseq_ac": [ { "id": "NP_065772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065772", "type": "external" } ], "gene_names_uniprotkb": "KIAA1210", "gene_names_refseq": "KIAA1210", "protein_names_uniprotkb": "Acrosomal protein KIAA1210", "protein_names_refseq": "acrosomal protein KIAA1210 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57481)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;23092983;23481700;25505266;26506222;27600516;28832583;29351928;29557506;30379171;30429286;33141586;33592498;34087483;34211107;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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "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": "B7ZCI8;Q5JPN4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001669 acrosomal vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9ULL0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y257-1", "uniprot_id": [ { "id": "KCNK6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y257", "type": "external" } ], "mass": 33747.0, "length": 313, "protein_name": "Potassium channel subfamily K member 6", "gene_name": "KCNK6", "organism": "Human", "refseq_name": "potassium channel subfamily K member 6", "refseq_ac": [ { "id": "NP_004814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004814", "type": "external" } ], "gene_names_uniprotkb": "KCNK6; TOSS; TWIK2", "gene_names_refseq": "K2p6.1; KCNK6; KCNK8; TOSS; TWIK-2; TWIK2", "protein_names_uniprotkb": "Potassium channel subfamily K member 6; Inward rectifying potassium channel protein TWIK-2; TWIK-originated similarity sequence", "protein_names_refseq": "K2P6.1 potassium channel; TWIK-originated similarity sequence; TWIK-originated sodium similarity sequence; inward rectifying potassium channel protein TWIK-2; potassium channel subfamily K member 6; potassium channel, two pore domain subfamily K, member 6", "tax_id": 9606, "disease": "brain infarction (Disease Ontology:DOID:3454)", "pathway": " (hsa:9424); (R-HSA-1299308); (R-HSA-5576886)", "pathway_count": 3, "publication_count": 26, "publication_id_list": "10075682;10359073;10887187;15795311;16382106;17652773;19959478;20029952;20393194;21964404;27862975;28381826;28832583;29393594;29557506;31848261;32157095;32350084;32387766;32938616;32983136;33968037;34171305;34509645;35051231;39894887", "class_list": "", "function": "Does not display channel activity., [UniProtKB, PubMed]; K(+) channel that conducts outward rectifying currents at the membranes of the endolysosomal system (PubMed:10887187, PubMed:28381826). Active in lysosomes where it regulates lysosome numbers and size (PubMed:28381826). In macrophages, enables K(+) efflux coupled to ATP-induced NLRP3 inflammasome activation upon bacterial infection. Cooperates with ATP-gated P2RX7 channels to activate NLRP3 inflammasome, with P2RX7 conducting Ca(2+) and Na(+) influx that sets the membrane potential for K(+) efflux (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Potassium channels, in particular K2P channels, are expressed and functional in the apical membrane of airway epithelial cells, [RefSeq, PubMed]; This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It is stimulated by arachidonic acid, and inhibited by internal acidification and volatile anaesthetics. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "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": "Q9HB47", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0015271 outward rectifier potassium channel activity;GO:0022841 potassium ion leak channel activity;GO:0046872 metal ion binding;GO:0005267 potassium channel activity;GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport;GO:1900227 positive regulation of NLRP3 inflammasome complex assembly;GO:0062196 regulation of lysosome size", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9Y257-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4A0-1", "uniprot_id": [ { "id": "JERKL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4A0", "type": "external" } ], "mass": 59912.0, "length": 524, "protein_name": "Jerky protein homolog-like", "gene_name": "JRKL", "organism": "Human", "refseq_name": "jerky protein homolog-like", "refseq_ac": [ { "id": "NP_001248762", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248762", "type": "external" } ], "gene_names_uniprotkb": "JRKL", "gene_names_refseq": "HHMJG; JRKL", "protein_names_uniprotkb": "Jerky protein homolog-like; HHMJG; Human homolog of mouse jerky gene protein", "protein_names_refseq": "human homolog of mouse jerky gene protein; jerky protein homolog-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:8690)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "23481700;25576301;27846572;27920218;28063628;28832583;28904123;29242379;29393594;29508533;29557506;29632046;30429286;31154438;31844290;31848261;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33717175;33912179;33968037;34932366;35051231;35580925;36241641;36581221;9240447", "class_list": "", "function": "The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8K3G4;B2RAJ3;Q32MC2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9Y4A0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCF5-1", "uniprot_id": [ { "id": "KLH33_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCF5", "type": "external" } ], "mass": 57810.0, "length": 533, "protein_name": "Kelch-like protein 33", "gene_name": "KLHL33", "organism": "Human", "refseq_name": "kelch-like protein 33 isoform 2", "refseq_ac": [ { "id": "NP_001103467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103467", "type": "external" } ], "gene_names_uniprotkb": "KLHL33", "gene_names_refseq": "KLHL33", "protein_names_uniprotkb": "Kelch-like protein 33", "protein_names_refseq": "kelch-like protein 33 isoform 2; kelch-like protein 33", "tax_id": 9606, "disease": "", "pathway": " (hsa:123103)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;24715725;31844290;32502341", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 0.5, "record_id": "A6NCF5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCN2-1", "uniprot_id": [ { "id": "KR87P_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCN2", "type": "external" } ], "mass": 29117.0, "length": 255, "protein_name": "Putative keratin-87 protein", "gene_name": "KRT87P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "KRT87P; KRT121P; KRTHBP4", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative keratin-87 protein; Keratin, hair, basic pseudogene 4; Keratin-121 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "23481700;32488085", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DTA1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NCN2-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MUX0-1", "uniprot_id": [ { "id": "KR161_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MUX0", "type": "external" } ], "mass": 53912.0, "length": 517, "protein_name": "Keratin-associated protein 16-1", "gene_name": "KRTAP16-1", "organism": "Human", "refseq_name": "keratin-associated protein 16-1", "refseq_ac": [ { "id": "NP_001139654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139654", "type": "external" } ], "gene_names_uniprotkb": "KRTAP16-1; KAP16.1", "gene_names_refseq": "KAP16.1; KRTAP16-1", "protein_names_uniprotkb": "Keratin-associated protein 16-1", "protein_names_refseq": "keratin-associated protein 16-1; putative keratin-associated protein 10-like ENSP00000375147", "tax_id": 9606, "disease": "", "pathway": " (hsa:100505753); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "", "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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "A8MUX0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00142-1", "uniprot_id": [ { "id": "KITM_HUMAN", "url": "https://www.uniprot.org/uniprot/O00142", "type": "external" } ], "mass": 31005.0, "length": 265, "protein_name": "Thymidine kinase 2, mitochondrial", "gene_name": "TK2", "organism": "Human", "refseq_name": "thymidine kinase 2 isoform 2", "refseq_ac": [ { "id": "NP_001166114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166114", "type": "external" } ], "gene_names_uniprotkb": "TK2", "gene_names_refseq": "MTDPS2; MTTK; PEOB3; SCA31; TK2-EXT; TK2", "protein_names_uniprotkb": "Thymidine kinase 2, mitochondrial; 2'-deoxyuridine kinase TK2; 2.7.1.-; 2.7.1.21; 2.7.1.74; Deoxycytidine kinase TK2; Mt-TK", "protein_names_refseq": "2'-deoxyuridine kinase TK2; deoxycytidine kinase TK2; mitochondrial thymidine kinase; mt-TK; thymidine kinase 2 isoform 2; thymidine kinase 2, mitochondrial", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 2 (Disease Ontology:DOID:0080120); autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 (Disease Ontology:DOID:0111523)", "pathway": " (hsa:7084); (R-HSA-73614)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "1063125;11237011;11306702;11687801;12199906;12391347;12429345;12808445;12849978;1406603;14609716;14725767;15130468;15639197;15689149;15733844;15907288;1590793;1597187;19291308;195585;1996353;2026611;20722631;20843780;21937588;2539852;2542307;25446393;2548513;2844225;29557506;3335503;3372530;34171305;34758700;35051231;35084690;35907766;7284378;7488099;7923172;8340387;9079672;9804782;9989599", "class_list": "", "function": "Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study., [RefSeq, PubMed]; Mutational analyses of human thymidine kinase 2 reveal key residues in ATP-Mg(2+) binding and catalysis., [RefSeq, PubMed]; Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix (PubMed:11687801, PubMed:9989599). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK (PubMed:9989599). Widely used as target of antiviral and chemotherapeutic agents (PubMed:9989599)., [UniProtKB, PubMed, PubMed]; This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]., [RefSeq]; Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)n., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": "B4DGJ7;B4DZK7;B7ZAB1;E5KNQ5;E9PH08;O15238", "ec_number_list": [ { "id": "2.7.1.74", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.74", "type": "external" }, { "id": "2.7.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.21", "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:0019206 nucleoside kinase activity;GO:0004137 deoxycytidine kinase activity;GO:0004797 thymidine kinase activity;GO:0019136 deoxynucleoside kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0043097 pyrimidine nucleoside salvage;GO:0071897 DNA biosynthetic process;GO:0046092 deoxycytidine metabolic process;GO:0046104 thymidine metabolic process;GO:0006139 nucleobase-containing compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "O00142-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WU17-1", "uniprot_id": [ { "id": "RN139_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WU17", "type": "external" } ], "mass": 75994.0, "length": 664, "protein_name": "E3 ubiquitin-protein ligase RNF139", "gene_name": "RNF139", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF139", "refseq_ac": [ { "id": "NP_009149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009149", "type": "external" } ], "gene_names_uniprotkb": "RNF139; TRC8", "gene_names_refseq": "HRCA1; RCA1; RNF139; TRC8", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF139; 2.3.2.27; RING finger protein 139; RING-type E3 ubiquitin transferase RNF139; Translocation in renal carcinoma on chromosome 8 protein", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF139; RING-type E3 ubiquitin transferase RNF139; multiple membrane spanning receptor TRC8; patched related protein translocated in renal cancer; translocation in renal carcinoma on chromosome 8 protein; translocation in renal carcinoma, chromosome 8", "tax_id": 9606, "disease": "nonpapillary renal cell carcinoma (Disease Ontology:DOID:0050387); renal cell carcinoma (Disease Ontology:DOID:4450)", "pathway": " (hsa:11236); (R-HSA-901032)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "40667337;10409699;10500182;10694380;11237011;12032852;12913004;15713668;16431915;17016439;17081983;17539022;18003979;18264092;18417469;18426978;18669648;18691976;18767875;19084021;19413330;19415658;19690332;19706601;19720873;20068067;20068231;20112406;21406692;22143767;23186163;23223569;23232094;24275569;25092655;25239945;25418920;25576301;25645385;25892735;26375851;26992070;27862975;27893789;27920218;28218747;28228285;28662643;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29519897;29557506;29632046;29769354;29786170;30315122;30429286;30524438;30563842;30833945;31092671;31154438;31217245;31844290;31848261;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;33981976;34087483;34106407;34171305;34405274;34509645;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37938771;9689122", "class_list": "", "function": "An E3 Ubiquitin Ligase RNF139 Serves as a Tumor-Suppressor in Glioma., [RefSeq, PubMed]; E3-ubiquitin ligase; acts as a negative regulator of cell proliferation through mechanisms involving G2/M arrest and cell death (PubMed:10500182, PubMed:12032852, PubMed:17016439). Required for MHC class I ubiquitination in cells expressing the cytomegalovirus protein US2 before dislocation from the endoplasmic reticulum (ER) (PubMed:19720873). Affects SREBP processing by hindering the SREBP-SCAP complex translocation from the ER to the Golgi, thereby reducing SREBF2 target gene expression (PubMed:19706601, PubMed:20068067). Involved in the sterol-accelerated degradation of HMGCR (PubMed:22143767, PubMed:23223569). This is achieved through binding of RNF139 to INSIG1 and/or INSIG2 at the ER membrane (PubMed:22143767). In addition, interaction of RNF139 with AUP1 facilitates interaction of RNF139 with ubiquitin-conjugating enzyme UBE2G2 and ubiquitin ligase AMFR, leading to ubiquitination of HMGCR (PubMed:23223569). The ubiquitinated HMGCR is then released from the ER into the cytosol for subsequent destruction (PubMed:22143767, PubMed:23223569). Required for INSIG1 ubiquitination (PubMed:20068067). May be required for EIF3 complex ubiquitination (PubMed:20068067)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; INSIG1 coordinated with another ligase, translocation in renal carcinoma chromosome 8 (TRC8), and promoted Gag degradation through the lysosome pathway., [RefSeq, PubMed]; Low RNF139 expression is associated with progression of tongue cancer. Publication Status: Online-Only, [RefSeq, PubMed]; TRC8 and MARCH6 depletion altered the turnover of the tail-anchored protein heme oxygenase-1., [RefSeq, PubMed]; TRC8 modulation of sterol response element binding protein activity comprises a novel regulatory link between growth control and the cholesterol/lipid homeostasis pathway., [RefSeq, PubMed]; The presence of diploid and tetraploid tumor cells with and without TRC8 deletions on the nontranslocated chromosome suggest that loss of the remaining normal allele of TRC8 may contribute to tumor development at later stages., [RefSeq, PubMed]; The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [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": 0, "reported_phosphosites": 4, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 8030, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KMD5;O75485;Q7LDL3", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" } ], "go_molecular_function": "GO:0002020 protease binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0019787 ubiquitin-like protein transferase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system;GO:0036513 Derlin-1 retrotranslocation complex", "go_biological_process": "GO:0060628 regulation of ER to Golgi vesicle-mediated transport;GO:0008285 negative regulation of cell population proliferation;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0017148 negative regulation of translation", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q8WU17-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15235-1", "uniprot_id": [ { "id": "RT12_HUMAN", "url": "https://www.uniprot.org/uniprot/O15235", "type": "external" } ], "mass": 15173.0, "length": 138, "protein_name": "Small ribosomal subunit protein uS12m", "gene_name": "MRPS12", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS12m precursor", "refseq_ac": [ { "id": "NP_066930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066930", "type": "external" } ], "gene_names_uniprotkb": "MRPS12; RPMS12; RPSM12", "gene_names_refseq": "MPR-S12; MRPS12; MT-RPS12; RPMS12; RPS12; RPSM12; uS12m", "protein_names_uniprotkb": "Small ribosomal subunit protein uS12m; 28S ribosomal protein S12, mitochondrial; MRP-S12; MT-RPS12; S12mt", "protein_names_refseq": "28S ribosomal protein S12, mitochondrial; MRP-S12; S12mt; mitochondrial small ribosomal subunit protein uS12m; small ribosomal subunit protein uS12m precursor", "tax_id": 9606, "disease": "sensorineural hearing loss (Disease Ontology:DOID:10003); dilated cardiomyopathy (Disease Ontology:DOID:12930); epilepsy (Disease Ontology:DOID:1826); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:6183); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 68, "publication_id_list": "15358359;17803939;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;23481700;24715725;25233460;25576301;25645385;25838379;26154972;26992070;27029019;27058226;27846572;27920218;28218747;28649982;28832583;28834231;28892042;28904123;29242379;29393594;29437277;29508533;29557506;29786170;29789417;30315122;31844290;31848261;31937595;31998317;32157095;32161166;32387766;32502341;32897882;32938616;33123756;33141586;33243891;33298915;33663122;33878294;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;35051231;35561310;36241641;36302763;36596788;37141370;9434165;9790755", "class_list": "", "function": "A novel biomarker, MRPS12 functions as a potential oncogene in ovarian cancer and is a promising prognostic candidate., [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S12P family. The encoded protein is a key component of the ribosomal small subunit and controls the decoding fidelity and susceptibility to aminoglycoside antibiotics. The gene for mitochondrial seryl-tRNA synthetase is located upstream and adjacent to this gene, and both genes are possible candidates for the autosomal dominant deafness gene (DFNA4). Splice variants that differ in the 5' UTR have been found for this gene; all three variants encode the same 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "Q53X98", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:0005761 mitochondrial ribosome", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "O15235-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NU1-3", "uniprot_id": [ { "id": "SAM11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NU1", "type": "external" } ], "mass": 72708.0, "length": 681, "protein_name": "Sterile alpha motif domain-containing protein 11", "gene_name": "SAMD11", "organism": "Human", "refseq_name": "sterile alpha motif domain-containing protein 11 isoform 3", "refseq_ac": [ { "id": "NP_689699", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689699", "type": "external" } ], "gene_names_uniprotkb": "SAMD11", "gene_names_refseq": "MRS; SAMD11", "protein_names_uniprotkb": "Sterile alpha motif domain-containing protein 11; SAM domain-containing protein 11", "protein_names_refseq": "SAM domain-containing protein 11; sterile alpha motif domain-containing protein 11 isoform 3; sterile alpha motif domain-containing protein 11", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:148398)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "17081983;23186163;23978614;25576301;26204995;26992070;27734943;27846572;28834231;29393594;29557506;29786170;30484775;31848261;32161166;32938616;33592498;33936100;34171305;34546569;35051231;36284347", "class_list": "", "function": "Analysis of a homozygous nonsense mutation in SAMD11 in five individuals diagnosed with adult-onset retinitis pigmentosa; SAMD11 interacts with CRX and is expressed in retina Publication Status: Online-Only, [RefSeq, PubMed]; CircSAMD11 facilitates progression of cervical cancer via regulating miR-503/SOX4 axis through Wnt/beta-catenin pathway., [RefSeq, PubMed]; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, essential for establishing rod photoreceptor cell identity and function by silencing nonrod gene expression in developing rod photoreceptor cells., [UniProtKB, UniProtKB]; SAMD11 was found to be widely expressed in many cell lines and ocular tissues and its transcription was not regulated by CRX, OTX2 or NR2E3 proteins., [RefSeq, PubMed]; SEZ6L, HISPPD1, FEZF1, SAMD11 gene variants may be associated with autism spectrum disorder., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A2AA76;I7FV78;I7FV81;I7G0Z6;Q5SV96;Q5SV99;Q5SVA0;Q8N195;Q8TB59", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0035102 PRC1 complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0046548 retinal rod cell development", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96NU1-3", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14896-1", "uniprot_id": [ { "id": "IRF6_HUMAN", "url": "https://www.uniprot.org/uniprot/O14896", "type": "external" } ], "mass": 53130.0, "length": 467, "protein_name": "Interferon regulatory factor 6", "gene_name": "IRF6", "organism": "Human", "refseq_name": "interferon regulatory factor 6 isoform 2", "refseq_ac": [ { "id": "NP_001193625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193625", "type": "external" } ], "gene_names_uniprotkb": "IRF6", "gene_names_refseq": "IRF6; LPS; OFC6; PIT; PPS1; PPS; VWS1; VWS", "protein_names_uniprotkb": "Interferon regulatory factor 6; IRF-6", "protein_names_refseq": "interferon regulatory factor 6 isoform 2", "tax_id": 9606, "disease": "popliteal pterygium syndrome (Disease Ontology:DOID:0060055); Van der Woude syndrome (Disease Ontology:DOID:0060239); orofacial cleft 6 (Disease Ontology:DOID:0080593); syndactyly (Disease Ontology:DOID:11193); cleft palate (Disease Ontology:DOID:674); cleft lip (Disease Ontology:DOID:9296)", "pathway": " (hsa:3664); (R-HSA-877300); (R-HSA-909733)", "pathway_count": 3, "publication_count": 147, "publication_id_list": "10067896;10395669;10542297;10982844;10986460;11092454;11237011;11337497;11377645;11404376;11585831;11782012;11972023;12029096;12040185;12219090;12438563;12446674;12766484;12842042;12915721;12920575;1396683;14586410;14618417;14640121;14722222;14769151;15047845;1508672;15143187;15300989;15312780;15317890;15322115;15388922;15449939;15530433;15778442;16009940;16049006;16171819;16237089;16467876;16987978;17122170;17125875;17251292;1730654;17351669;17969444;18035202;18212048;18362138;18478600;18575461;18591661;19036739;19372376;20049711;20130243;20304997;20363976;20643137;20803643;21082654;2211721;22424782;23061660;23121362;24377609;24417533;25371710;25576301;25691407;26154972;27862975;29393594;29508533;29557506;29632711;29786170;29789417;30485383;30779550;31154438;31844290;32032529;32113509;32511913;32574262;32661006;32758689;32862111;33117408;33141586;33189161;33193462;33239784;33396578;33537174;33633747;33981976;35051231;35318648;35580925;36241641;36284347;38429584;38493179;38546517;38809584;6162102;6548414;688397;7510216;7514165;7526154;7530745;7537377;7540766;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8197134;8232552;8483949;8530158;8550631;8605876;8621447;8631301;8702790;9096384;9111318;9121453;9143706;9242679;9334213;9660177;9847332;9861020", "class_list": "", "function": "A novel noncanonical function for IRF6 in the recycling of E-cadherin., [RefSeq, PubMed]; An identification of three missense mutatins and one nonsense mutation in IRF6, [RefSeq, PubMed]; Biophysical and functional characterization of N-terminal domain of Human Interferon Regulatory Factor 6. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and validation of IRF6 related to ovarian cancer and biological function and prognostic value. Publication Status: Online-Only, [RefSeq, PubMed]; Includes the study of a disease-related upstream ORF in this gene, and shows that it functions to reduce protein levels by ~96%., [RefSeq, PubMed]; Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes, [RefSeq, PubMed]; Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity)., [UniProtKB]; Review on the Role of IRF6 in the Pathogenesis of Non-syndromic Orofacial Clefts. Review article, [RefSeq, PubMed]; This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DLE2;D3DT90;F5GWX8;G0ZTL0", "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:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045177 apical part of cell;GO:0070062 extracellular exosome", "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:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "O14896-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60684-1", "uniprot_id": [ { "id": "IMA7_HUMAN", "url": "https://www.uniprot.org/uniprot/O60684", "type": "external" } ], "mass": 60030.0, "length": 536, "protein_name": "Importin subunit alpha-7", "gene_name": "KPNA6", "organism": "Human", "refseq_name": "importin subunit alpha-7", "refseq_ac": [ { "id": "NP_036448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036448", "type": "external" } ], "gene_names_uniprotkb": "KPNA6; IPOA7", "gene_names_refseq": "IPOA7; KPNA6", "protein_names_uniprotkb": "Importin subunit alpha-7; Karyopherin subunit alpha-6", "protein_names_refseq": "importin alpha 7 subunit; importin subunit alpha-7; importin-alpha-S2; karyopherin alpha 6 (importin alpha 7)", "tax_id": 9606, "disease": "", "pathway": " (hsa:23633); (R-HSA-68616)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10523667;11237011;12909626;16549788;16762929;17680271;17716973;17928350;18691976;19413330;19651622;19691289;20068231;21555516;22121020;22398447;22424782;22751019;22967762;23186163;23187890;23555621;23795651;24003239;24714562;25576301;25645385;25689043;25784553;25880248;26139588;26154972;26992070;27600516;27862975;27920218;28228285;28510447;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29786170;30315122;30429286;30576860;31154438;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32808929;32897882;32938616;32983136;33141586;33214551;33298899;33298915;33392160;33592498;33633747;33691108;33717175;33801762;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34357683;34405274;34509645;34932366;35013395;35044222;35051231;35138101;35318648;35561310;35580925;36010968;36241641;40914422", "class_list": "", "function": "Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus., [UniProtKB, PubMed]; KPNA6 is a Cofactor of ANP32A/B in Supporting Influenza Virus Polymerase Activity., [RefSeq, PubMed]; Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008]., [RefSeq]; Structural characterization of human importin alpha 7 in its cargo-free form at 2.5 A resolution. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RDC7;D3DPP5;Q5VVU3", "ec_number_list": [], "go_molecular_function": "GO:0008139 nuclear localization sequence binding;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0043657 host cell", "go_biological_process": "GO:1903902 positive regulation of viral life cycle;GO:0006607 NLS-bearing protein import into nucleus;GO:0075506 entry of viral genome into host nucleus through nuclear pore complex via importin;GO:0006606 protein import into nucleus;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O60684-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94822-1", "uniprot_id": [ { "id": "LTN1_HUMAN", "url": "https://www.uniprot.org/uniprot/O94822", "type": "external" } ], "mass": 200552.0, "length": 1766, "protein_name": "E3 ubiquitin-protein ligase listerin", "gene_name": "LTN1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase listerin isoform 1", "refseq_ac": [ { "id": "NP_056380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056380", "type": "external" } ], "gene_names_uniprotkb": "LTN1; C21orf10; C21orf98; HSPC087; KIAA0714; RNF160; ZNF294", "gene_names_refseq": "C21orf10; C21orf98; LTN1; RNF160; ZNF294", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase listerin; 2.3.2.27; RING finger protein 160; RING-type E3 ubiquitin transferase listerin; Zinc finger protein 294", "protein_names_refseq": "E3 ubiquitin-protein ligase listerin isoform 1; E3 ubiquitin-protein ligase listerin; RING-type E3 ubiquitin transferase listerin; ring finger protein 160; zinc finger protein 294", "tax_id": 9606, "disease": "", "pathway": " (hsa:26046); (R-HSA-983168); (R-HSA-9954709)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20068231;2261476;23481700;23685075;24366607;25132172;25418920;25505266;25576301;25578875;25645385;25877867;25880248;26154972;26375851;26992070;27600516;27846572;27920218;28218747;28228285;28510447;28757607;28832583;28834231;28855257;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29557506;29632046;29632312;29632711;29786170;30244831;30315122;30410026;30429286;30484775;30524438;30779550;31011209;31092671;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33406423;33592498;33691108;33909987;33912179;33936100;33968037;34171305;34185709;34357683;34405274;34509645;34676516;35051231;35561310;35580925;36010968;36241641;36284347;37676773;37938771;38060409;9380723;9668046", "class_list": "", "function": "E3 ligase listerin accesses nascent polypeptides stalled at the Sec61 translocon via a gap in the ribosome-translocon junction near the Sec61 lateral gate., [RefSeq, PubMed]; E3 ubiquitin-protein ligase component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation (PubMed:23685075, PubMed:25132172, PubMed:25578875, PubMed:28757607). Within the RQC complex, LTN1 is recruited to stalled 60S ribosomal subunits by NEMF and mediates ubiquitination of stalled nascent chains (PubMed:25578875). Ubiquitination leads to VCP/p97 recruitment for extraction and degradation of the incomplete translation product (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; E3 ubiquitin-protein ligase. Component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation., [UniProtKB, UniProtKB, UniProtKB]; Expression Analysis of Ermin and Listerin E3 Ubiquitin Protein Ligase 1 Genes in the Periphery of Patients with Schizophrenia., [RefSeq, PubMed]; LTN1 promotes RLR degradation to inhibit immune response to RNA virus through the ESCRT pathway., [RefSeq, PubMed]; Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010]., [RefSeq]; Results show that Listerin specificity for nascent chain-60S complexes depends on nuclear export mediator 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": 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": 19, "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": "A6NL41;A7E2D0;B2RTS0;C9J7U3;J3KPL4;Q05C47;Q9H8M4;Q9NUY5;Q9P0E9", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "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": "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" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0043023 ribosomal large subunit binding", "go_cellular_component": "GO:0005829 cytosol;GO:0022626 cytosolic ribosome;GO:1990112 RQC complex", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0051865 protein autoubiquitination;GO:1990116 ribosome-associated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "O94822-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XI8-1", "uniprot_id": [ { "id": "ZSWM9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XI8", "type": "external" } ], "mass": 70073.0, "length": 627, "protein_name": "Uncharacterized protein ZSWIM9", "gene_name": "ZSWIM9", "organism": "Human", "refseq_name": "uncharacterized protein ZSWIM9", "refseq_ac": [ { "id": "NP_955373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_955373", "type": "external" } ], "gene_names_uniprotkb": "ZSWIM9; C19orf68", "gene_names_refseq": "C19orf68; ZSWIM9", "protein_names_uniprotkb": "Uncharacterized protein ZSWIM9", "protein_names_refseq": "uncharacterized protein C19orf68; uncharacterized protein ZSWIM9", "tax_id": 9606, "disease": "", "pathway": " (hsa:374920)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "19773279;20112406;23481700;24715725;27920218;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29769354;29786170;30315122;31844290;32357974;32502341;32938616;33298915;33537174;33592498;33717175;33912179;33968037;35051231;36010968", "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": 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": "A0A087WWL5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q86XI8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZL4-1", "uniprot_id": [ { "id": "HPBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZL4", "type": "external" } ], "mass": 39303.0, "length": 359, "protein_name": "Hsp70-binding protein 1", "gene_name": "HSPBP1", "organism": "Human", "refseq_name": "hsp70-binding protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001123578", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123578", "type": "external" } ], "gene_names_uniprotkb": "HSPBP1; HSPBP; PP1845", "gene_names_refseq": "FES1; HSPBP1", "protein_names_uniprotkb": "Hsp70-binding protein 1; Heat shock protein-binding protein 1; Hsp70-binding protein 2; Hsp70-interacting protein 1; Hsp70-interacting protein 2; HspBP1; HspBP2", "protein_names_refseq": "HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1; heat shock protein-binding protein 1; hsp70 interacting protein; hsp70-binding protein 1 isoform 2; hsp70-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23640)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "10786638;11237011;12651857;15215316;15498874;15694338;16303743;18669648;19415658;20068231;21247889;21406692;23186163;23301498;23481700;25418920;25576301;25645385;26728094;27600516;27862975;27920218;28510447;28832583;28834231;29242379;29393594;29557506;29632711;30315122;30429286;30833945;31154438;31373491;31844290;31848261;32119511;32157095;32357974;32488085;32502341;32870666;32897882;32938616;33592498;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34229054;34725712;34932366;35132862;35387978;35580925;36010968;40307207;40596516;40914422;9830037", "class_list": "", "function": "HspBP1 is a dual function regulatory protein that controls both DNA repair and apoptosis in breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits HSPA1A chaperone activity by changing the conformation of the ATP-binding domain of HSPA1A and interfering with ATP binding. Interferes with ubiquitination mediated by STUB1 and inhibits chaperone-assisted degradation of immature CFTR., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The cochaperone HspBP1 binds to and inhibits Hsp70 activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 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": "B3KQP0;B4DG11;O95351;Q6ZNU5", "ec_number_list": [], "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0031625 ubiquitin protein ligase binding;GO:0000774 adenyl-nucleotide exchange factor activity;GO:0140313 molecular sequestering activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006457 protein folding;GO:0031398 positive regulation of protein ubiquitination;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9NZL4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96G03-1", "uniprot_id": [ { "id": "PGM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96G03", "type": "external" } ], "mass": 68283.0, "length": 612, "protein_name": "Phosphopentomutase", "gene_name": "PGM2", "organism": "Human", "refseq_name": "phosphopentomutase", "refseq_ac": [ { "id": "NP_060760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060760", "type": "external" } ], "gene_names_uniprotkb": "PGM2; MSTP006", "gene_names_refseq": "MSTP006; PGM2", "protein_names_uniprotkb": "Phosphopentomutase; 5.4.2.2; 5.4.2.7; Glucose phosphomutase 2; Phosphodeoxyribomutase; Phosphoglucomutase-2", "protein_names_refseq": "PGM 2; glucose phosphomutase 2; phosphodeoxyribomutase; phosphopentomutase", "tax_id": 9606, "disease": "", "pathway": " (hsa:55276); (R-HSA-6798695); (R-HSA-71336)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10518023;10869557;11230166;11237011;11283793;12665801;14988808;17322306;17585908;17804405;18186520;18560757;18669648;18767875;18775706;18927083;20068231;20166139;20230923;20923965;22223895;22682222;23186163;23650620;24275569;25229427;25418920;2581946;26768311;28218747;28514659;28904123;29393594;29437277;29557506;29786170;30484775;30524438;31154438;31844290;32157095;32350084;32387766;32488085;32938616;33298915;33592498;33912179;33968037;33981976;34171305;34725712;35051231;35154160;35561310;36215666;36255742;38665916;3932573;3994686;40914422;7396409;8300619;8692836;9357955;9920387", "class_list": "glycogene", "function": "Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5-phosphopentoses (PubMed:17804405). Catalyzes the reversible isomerization of alpha-D-glucose 1-phosphate to alpha-D-glucose 6-phosphate but with a lower catalytic efficiency (PubMed:17804405). The mechanism proceeds via the intermediate compound alpha-D-glucose 1,6-bisphosphate (PubMed:17804405). In vitro, also has a low glucose 1,6-bisphosphate synthase activity which is most probably not physiologically relevant (PubMed:17804405, PubMed:18927083)., [UniProtKB, PubMed, PubMed]; FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies., [RefSeq, PubMed]; In the present work, phosphopentomutase was purified from human erythrocytes and found it to copurify with a 68-kDa polypeptide that was identified by mass spectrometry as PGM2, sharing about 20% identity with mammalian phosphoglucomutase 1., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 737, "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": "B4E0G8;Q53FP5;Q5QTR0;Q9H0P9;Q9NV22", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.1.35", "url": 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"https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004614 phosphoglucomutase activity;GO:0008973 phosphopentomutase activity;GO:0046872 metal ion binding;GO:0016868 intramolecular phosphotransferase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0034774 secretory granule lumen;GO:0070062 extracellular exosome;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "GO:0006006 glucose metabolic process;GO:0005978 glycogen biosynthetic process;GO:0006166 purine ribonucleoside salvage;GO:0005980 glycogen catabolic process;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q96G03-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JYT7-1", "uniprot_id": [ { "id": "K1755_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JYT7", "type": "external" } ], "mass": 130846.0, "length": 1200, "protein_name": "Uncharacterized protein KIAA1755", "gene_name": "KIAA1755", "organism": "Human", "refseq_name": "uncharacterized protein KIAA1755 isoform a", "refseq_ac": [ { "id": "NP_001025035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025035", "type": "external" } ], "gene_names_uniprotkb": "KIAA1755", "gene_names_refseq": "KIAA1755; quo", "protein_names_uniprotkb": "Uncharacterized protein KIAA1755", "protein_names_refseq": "RP5-1054A22.3; quattro homolog; uncharacterized protein KIAA1755 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:85449)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;29557506;30429286;31154438;31530632;31844290;31848261;32387766;33592498;34087483;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": 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": "Q9C0A8", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0019898 extrinsic component of membrane", "go_biological_process": "GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5JYT7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23677-1", "uniprot_id": [ { "id": "IP3KA_HUMAN", "url": "https://www.uniprot.org/uniprot/P23677", "type": "external" } ], "mass": 51009.0, "length": 461, "protein_name": "Inositol-trisphosphate 3-kinase A", "gene_name": "ITPKA", "organism": "Human", "refseq_name": "inositol-trisphosphate 3-kinase A", "refseq_ac": [ { "id": "NP_002211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002211", "type": "external" } ], "gene_names_uniprotkb": "ITPKA", "gene_names_refseq": "IP3-3KA; IP3KA; ITPKA", "protein_names_uniprotkb": "Inositol-trisphosphate 3-kinase A; 2.7.1.127; IP3 3-kinase A; IP3K A; Inositol 1,4,5-trisphosphate 3-kinase A; InsP 3-kinase A", "protein_names_refseq": "IP3 3-kinase A; IP3K A; inositol 1,4,5-trisphosphate 3-kinase A; inositol-trisphosphate 3-kinase A; insP 3-kinase A", "tax_id": 9606, "disease": "", "pathway": " (hsa:3706); (R-HSA-1855204)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10593988;10866302;11022047;11022048;11042108;11118617;11237011;11909533;12223481;12747803;1333955;15037625;15140260;15316017;15350214;15474001;15579586;15702972;15790568;16107206;1644792;1718960;1847047;19179337;2175886;23186163;2550068;25645385;26154972;26992070;28218747;2841328;28834231;29242379;29437277;29557506;29789417;30315122;31222486;31844290;31848261;31998317;32015686;32157095;32357974;32387766;32488085;32938616;33624455;33879633;34509645;34561969;35051231;36010968;36688944;37664985;7721860;7761412;7890667;8407970;8454637;8530101;8662638;8723348;8769125;9155020;9360711;9374536;9430698;9593664", "class_list": "", "function": "Catalyzes the phosphorylation of 1D-myo-inositol 1,4,5-trisphosphate (InsP3) into 1D-myo-inositol 1,3,4,5-tetrakisphosphate and participates to the regulation of calcium homeostasis., [UniProtKB, PubMed, PubMed, PubMed]; Commentary on: The actin bundling activity of ITPKA mainly accounts for its migration-promoting effect in lung cancer cells., [RefSeq, PubMed]; ITPKA induces cell senescence, inhibits ovarian cancer tumorigenesis and can be downregulated by miR-203., [RefSeq, PubMed]; Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011]., [RefSeq]; Relationship of ITPKA expression with the prognosis of breast cancer., [RefSeq, PubMed]; TFAP2A Induced ITPKA Serves as an Oncogene and Interacts with DBN1 in Lung Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The actin bundling activity of ITPKA mainly accounts for its migration-promoting effect in lung cancer cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 8, "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": "Q8TAN3", "ec_number_list": [ { "id": "2.7.1.127", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.127", "type": "external" }, { "id": "2.7.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.-.-", "type": "external" } ], "go_molecular_function": "GO:0000828 inositol hexakisphosphate kinase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0031267 small GTPase binding;GO:0008440 inositol-1,4,5-trisphosphate 3-kinase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098871 postsynaptic actin cytoskeleton;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0098885 modification of postsynaptic actin cytoskeleton;GO:0007165 signal transduction;GO:0051592 response to calcium ion;GO:0071277 cellular response to calcium ion;GO:0046854 phosphatidylinositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P23677-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N201-1", "uniprot_id": [ { "id": "INT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N201", "type": "external" } ], "mass": 244297.0, "length": 2190, "protein_name": "Integrator complex subunit 1", "gene_name": "INTS1", "organism": "Human", "refseq_name": "integrator complex subunit 1", "refseq_ac": [ { "id": "NP_001073922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073922", "type": "external" } ], "gene_names_uniprotkb": "INTS1; KIAA1440; PRO3434", "gene_names_refseq": "INT1; INTS1; NDCAGF; NET28", "protein_names_uniprotkb": "Integrator complex subunit 1; Int1", "protein_names_refseq": "integrator complex subunit 1", "tax_id": 9606, "disease": "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (Disease Ontology:DOID:0070346); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:26173); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 137, "publication_id_list": "10.1101/2023.09.13.557529;10022900;11237011;11856838;12414730;12574128;12975309;14701755;1535687;16239144;16308568;16901896;16964243;17081983;1739980;18079403;1829677;18452278;18491316;18669648;18691976;19007248;19413330;19608861;19664994;19664995;19667075;19691289;20068231;20457598;2125285;21406692;22137580;22231121;22252320;22441827;22645359;23166507;23186163;23481700;23904267;23932780;24097444;24270878;24275569;24714562;24715725;24997600;25201415;25418920;25576301;25645385;25675981;25802875;25892735;26154972;26308897;26992070;27846572;27862975;28542170;28904123;29437277;2944599;29471365;29493099;29508533;29557506;30315122;30410026;30429286;30622326;30737432;30779550;31154438;31217245;31428919;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33243860;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34509645;34561969;34762484;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;36581221;36869814;37938771;38253038;38570683;39032490;39189071;40596516;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "A deleterious variant of INTS1 leads to disrupted sleep-wake cycles., [RefSeq, PubMed]; Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:25201415, PubMed:33243860, PubMed:38570683). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:33243860). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:16239144, PubMed:26308897, PubMed:30737432). Within the integrator complex, INTS1 is involved in the post-termination step: INTS1 displaces INTS3 and the SOSS factors, allowing the integrator complex to return to the closed conformation, ready to bind to the paused elongation complex for another termination cycle (PubMed:38570683). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex (PubMed:23904267)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NJ44;Q6NT70;Q6UX74;Q8WV40;Q96D36;Q9NTD1;Q9P2A8;Q9Y3W8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0032039 integrator complex", "go_biological_process": "GO:0034474 U2 snRNA 3'-end processing;GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0016180 snRNA processing;GO:0160240 RNA polymerase II transcription initiation surveillance", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "Q8N201-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCP6-1", "uniprot_id": [ { "id": "HHATL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCP6", "type": "external" } ], "mass": 56703.0, "length": 504, "protein_name": "Protein-cysteine N-palmitoyltransferase HHAT-like protein", "gene_name": "HHATL", "organism": "Human", "refseq_name": "protein-cysteine N-palmitoyltransferase HHAT-like protein", "refseq_ac": [ { "id": "NP_065758", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065758", "type": "external" } ], "gene_names_uniprotkb": "HHATL; C3orf3; GUP1; KIAA1173", "gene_names_refseq": "C3orf3; GUP1; HHATL; MBOAT3; MG56; MSTP002; OACT3", "protein_names_uniprotkb": "Protein-cysteine N-palmitoyltransferase HHAT-like protein; Glycerol uptake/transporter homolog; Hedgehog acyltransferase-like protein", "protein_names_refseq": "GUP1 glycerol uptake/transporter homolog; glycerol uptake/transporter homolog; hedgehog acyltransferase-like protein; membrane bound O-acyltransferase domain containing 3; mitsugumin 56; protein-cysteine N-palmitoyltransferase HHAT-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:57467)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;11374908;20646595;29557506;31154438;35051231;35580925", "class_list": "", "function": "KIAA1173 gene is highly expressed in normal skin, but it becomes down-regulated in skin squamous cell carcinoma., [RefSeq, PubMed]; Negatively regulates N-terminal palmitoylation of SHH by HHAT/SKN., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8TBG3;Q9ULP7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0060262 negative regulation of N-terminal protein palmitoylation;GO:0031399 regulation of protein modification process", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9HCP6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGK3-1", "uniprot_id": [ { "id": "STAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGK3", "type": "external" } ], "mass": 44894.0, "length": 403, "protein_name": "Signal-transducing adaptor protein 2", "gene_name": "STAP2", "organism": "Human", "refseq_name": "signal-transducing adaptor protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001013863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013863", "type": "external" } ], "gene_names_uniprotkb": "STAP2; BKS", "gene_names_refseq": "BKS; STAP2", "protein_names_uniprotkb": "Signal-transducing adaptor protein 2; BRK substrate; Breast tumor kinase substrate; STAP-2", "protein_names_refseq": "BRK substrate; breast tumor kinase substrate; brk kinase substrate; signal-transducing adaptor protein 2 isoform 2; signal-transducing adaptor protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55620); (R-HSA-8849474); (R-HSA-9707564)", "pathway_count": 3, "publication_count": 45, "publication_id_list": "10980601;11237011;12540842;12810085;12969439;15611091;16300827;16568091;17264172;17368569;19393627;19690164;19968714;20929863;21098664;22311708;22427940;22547065;25576301;25880248;26992070;28478037;28698372;28832583;28986450;29242379;29557506;31217245;31844290;32574038;33298915;33592498;33912179;33968037;34087483;34185709;3427020;34357683;3475708;34780812;35051231;35132862;38461189;39534244;6094553", "class_list": "", "function": "High STAP2 expression is associated with prostate cancer., [RefSeq, PubMed]; STAP-2 facilitates insulin signaling through binding to CAP/c-Cbl and regulates adipocyte differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; STAP-2/BKS is a modulator of STAT5-mediated signaling, [RefSeq, PubMed]; Signal-transducing adaptor protein-1 and protein-2 in hematopoiesis and diseases. Review article, [RefSeq, PubMed]; Substrate of protein kinase PTK6. May play a regulatory role in the acute-phase response in systemic inflammation and may modulate STAT3 activity., [UniProtKB, PubMed]; These data indicate that STAP-2/BKS negatively controls the FcepsilonRI-mediated calcium mobilization and degranulation by direct modulation of tyrosine phosphorylation of PLC-gamma., [RefSeq, PubMed]; This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 4, "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": "A6NKK3;Q9NXI2", "ec_number_list": [], "go_molecular_function": "GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9UGK3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NK06-1", "uniprot_id": [ { "id": "IRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NK06", "type": "external" } ], "mass": 52628.0, "length": 481, "protein_name": "Cis-aconitate decarboxylase", "gene_name": "ACOD1", "organism": "Human", "refseq_name": "cis-aconitate decarboxylase", "refseq_ac": [ { "id": "NP_001245335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245335", "type": "external" } ], "gene_names_uniprotkb": "ACOD1; IRG1", "gene_names_refseq": "ACOD1; CAD; IRG1", "protein_names_uniprotkb": "Cis-aconitate decarboxylase; 4.1.1.6; Aconitate decarboxylase 1; Aconitate decarboxylase; CAD; Cis-aconitic acid decarboxylase; Immune-responsive gene 1 protein", "protein_names_refseq": "cis-aconitate decarboxylase; cis-aconitic acid decarboxylase; immune-responsive gene 1 protein homolog; immunoresponsive 1 homolog", "tax_id": 9606, "disease": "esophageal carcinoma (Disease Ontology:DOID:1107); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520)", "pathway": " (hsa:730249)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1101/2023.09.13.557529;21424586;23481700;23609450;23610393;29557506;31548418;32502341;32983136;35051231;35662396;36479617;37096266;37115931;37365251;38520689", "class_list": "", "function": "Acod1 expression in cancer cells promotes immune evasion through the generation of inhibitory peptides., [RefSeq, PubMed]; Amino acid positions near the active site determine the reduced activity of human ACOD1 compared to murine ACOD1. Publication Status: Online-Only, [RefSeq, PubMed]; Cis-aconitate decarboxylase that catalyzes production of itaconate and is involved in the inhibition of the inflammatory response (PubMed:23609450, PubMed:23610393, PubMed:31548418, PubMed:35662396). Acts as a negative regulator of the Toll-like receptors (TLRs)-mediated inflammatory innate response by stimulating the tumor necrosis factor alpha-induced protein TNFAIP3 expression via reactive oxygen species (ROS) in LPS-tolerized macrophages (PubMed:23609450). Involved in antimicrobial response of innate immune cells; ACOD1-mediated itaconic acid production contributes to the antimicrobial activity of macrophages by generating itaconate, leading to alkylation of proteins, such as TFEB (PubMed:23610393, PubMed:35662396). Involved in antiviral response following infection by flavivirus in neurons: ACOD1-mediated itaconate production inhibits the activity of succinate dehydrogenase, generating a metabolic state in neurons that suppresses replication of viral genomes (By similarity). Plays a role in the embryo implantation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; IRG1 links cellular metabolism with immune defense by catalyzing itaconic acid production GeneRIF: Irg1 gene encodes an enzyme synthesizing itaconic acid from the TCA cycle intermediate cisaconitate. Furthermore, our data also show that IRG1 mediated itaconic acid production contributes to the antimicrobial activity of macrophages., [RefSeq, PubMed]; Inducible IRG1 promotes endotoxin tolerance by increasing A20 expression through ROS, indicating a new molecular mechanism regulating hypoinflammation of sepsis and endotoxin tolerance., [RefSeq, PubMed]; Macrophages inhibit Coxiella burnetii by the ACOD1-itaconate pathway for containment of Q fever., [RefSeq, PubMed]; Results indicated that the IRG1 gene is differentially expressed in human fetal PBMCs and LPS-stimulated adult PBMCs., [RefSeq, PubMed]; Targeting IRG1 reverses the immunosuppressive function of tumor-associated macrophages and enhances cancer immunotherapy., [RefSeq, PubMed]; [Clinical features of 6 children with uridine-responsive developmental epileptic encephalopathy 50 caused by CAD gene variants]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 8, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "4.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.6", "type": "external" } ], "go_molecular_function": "GO:0047613 aconitate decarboxylase activity;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0002760 positive regulation of antimicrobial humoral response;GO:0034136 negative regulation of toll-like receptor 2 signaling pathway;GO:0071393 cellular response to progesterone stimulus;GO:0072573 tolerance induction to lipopolysaccharide;GO:0006952 defense response", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "A6NK06-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZU35-1", "uniprot_id": [ { "id": "CRACD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZU35", "type": "external" } ], "mass": 136760.0, "length": 1233, "protein_name": "Capping protein-inhibiting regulator of actin dynamics", "gene_name": "CRACD", "organism": "Human", "refseq_name": "capping protein-inhibiting regulator of actin dynamics isoform 1", "refseq_ac": [ { "id": "NP_065773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065773", "type": "external" } ], "gene_names_uniprotkb": "CRACD; CRAD; KIAA1211", "gene_names_refseq": "CRACD; CRAD; KIAA1211", "protein_names_uniprotkb": "Capping protein-inhibiting regulator of actin dynamics; Cancer-related regulator of actin dynamics", "protein_names_refseq": "cancer-related regulator of actin dynamics; capping protein-inhibiting regulator of actin dynamics isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57482)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11230166;11237011;18220336;18452278;18669648;19413330;20068231;21406692;23186163;24275569;26154972;27717682;27846572;27920218;29393594;29557506;30361697;31699089;31844290;32157095;33006362;33298915;35051231;35172140;36284347;37217939", "class_list": "", "function": "Datam indicate that cancer-related regulator of actin dynamics (CRAD) as frequently mutated or transcriptionally downregulated and as a tumour suppressor in colorectal cancer (CRC). GeneRIF: CRAD (Cancer-related Regulator of Actin Dynamics, previously KIAA1211) binds to and inhibits capping proteins, which leads to actin polymerization. CRAD is ubiquitously expressed in epithelial cells and is required for the maintenance of epithelial cell integrity. Genetic ablation of this gene deregulates Wnt signaling and induces the development of tumors in mouse models., [RefSeq, PubMed]; Involved in epithelial cell integrity by acting on the maintenance of the actin cytoskeleton. Positively regulates the actin polymerization, by inhibiting the interaction of actin-capping proteins with actin., [UniProtKB, PubMed]; Knockdown of CRAD suppresses the growth and promotes the apoptosis of human lung cancer cells via Claudin 4., [RefSeq, PubMed]; Substrate rigidity dictates colorectal tumorigenic cell stemness and metastasis via CRAD-dependent mechanotransduction., [RefSeq, PubMed]; The overall survival of small cell lung cancer patients carrying KIAA1211 mutation was significantly longer than those with wild-type KIAA1211. 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": 20, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9NTE2;Q9NTP8;Q9ULK9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0030277 maintenance of gastrointestinal epithelium;GO:0030838 positive regulation of actin filament polymerization;GO:0010669 epithelial structure maintenance;GO:2000813 negative regulation of barbed-end actin filament capping", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q6ZU35-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZL8-1", "uniprot_id": [ { "id": "PELP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZL8", "type": "external" } ], "mass": 119700.0, "length": 1130, "protein_name": "Proline-, glutamic acid- and leucine-rich protein 1", "gene_name": "PELP1", "organism": "Human", "refseq_name": "proline-, glutamic acid- and leucine-rich protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001265170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265170", "type": "external" } ], "gene_names_uniprotkb": "PELP1; HMX3; MNAR", "gene_names_refseq": "MNAR; P160; PELP1", "protein_names_uniprotkb": "Proline-, glutamic acid- and leucine-rich protein 1; Modulator of non-genomic activity of estrogen receptor; Transcription factor HMX3", "protein_names_refseq": "modulator of non-genomic activity of estrogen receptor; proline and glutamic acid rich nuclear protein; proline-, glutamic acid- and leucine-rich protein 1 isoform 2; proline-, glutamic acid- and leucine-rich protein 1; transcription factor HMX3", "tax_id": 9606, "disease": "", "pathway": " (hsa:27043); (R-HSA-6791226); (R-HSA-8849473)", "pathway_count": 3, "publication_count": 152, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11481323;11922599;12068309;12150911;12415108;12682072;14963108;15374949;15456770;15579769;15960975;15994929;16037817;16043514;16140940;16352611;16567619;16574651;16738141;17081983;17189298;17194752;17353269;17412707;17505058;17525332;18065403;18438418;18669648;19106111;19332556;19564402;19801658;20038530;20056613;20068231;20531386;20798176;20805244;20807815;20819938;21036871;21063389;21097556;21326211;21406692;21695158;22072790;22190735;22195017;22223895;22424782;22872859;22916032;23186163;23301498;23439679;23481700;23482395;2388630;23928995;24275569;24366607;24424021;24550520;24714562;24715725;24786831;25418920;25525153;25576301;25645385;25788226;25892735;25969445;26154972;26237581;26375851;26728094;26811146;26825173;26929215;26992070;27814492;27846572;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28860189;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30059200;30192525;30315122;30418433;30524438;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33465208;33592498;33691108;33717175;33936100;33968037;34019948;34171305;34185709;34357683;34509645;35051231;35083852;35254053;35318648;35561310;35580925;35969940;36010968;36215666;36241641;36577884;37159918;39302247;40596516;40914422;9482744", "class_list": "", "function": "Coactivator of estrogen receptor-mediated transcription and a corepressor of other nuclear hormone receptors and sequence-specific transcription factors (PubMed:14963108). Plays a role in estrogen receptor (ER) genomic activity when present in the nuclear compartment by activating the ER target genes in a hormonal stimulation dependent manner. Can facilitate ER non-genomic signaling via SRC and PI3K interaction in the cytosol. Plays a role in E2-mediated cell cycle progression by interacting with RB1. May have important functional implications in ER/growth factor cross-talk. Interacts with several growth factor signaling components including EGFR and HRS. Functions as the key stabilizing component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit. Regulates pre-60S association of the critical remodeling factor MDN1 (PubMed:21326211). May promote tumorigenesis via its interaction with and modulation of several oncogenes including SRC, PI3K, STAT3 and EGFR. Plays a role in cancer cell metastasis via its ability to modulate E2-mediated cytoskeleton changes and cell migration via its interaction with SRC and PI3K., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Expression of estrogen receptors, PELP1, and SRC in human spermatozoa and their associations with semen quality., [RefSeq, PubMed]; PELP1 and SRC kinase as important molecules in the estrogen-mediated pathway in human testis and epididymis., [RefSeq, PubMed]; PELP1 is a coactivator of estrogen receptor (ER), interacts with ER, and may have a role in mammary tumorigenesis., [RefSeq, PubMed]; PELP1 is overexpressed in lung cancer and promotes tumor cell malignancy and resistance to tyrosine kinase inhibitor drug., [RefSeq, PubMed]; PELP1 recruits HDAC2 and masks histones using two separate domains, [RefSeq, PubMed]; PELP1, a steroid coactivator, plays a permissive role in E2-mediated cell cycle progression, presumably via its regulatory interaction with the pRb pathway, [RefSeq, PubMed]; Results provide novel insights about the transcription regulation of PELP1 and suggest that PELP1 participates in chromatin remodeling activity via displacement of histone 1 in cancer cells., [RefSeq, PubMed]; This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]., [RefSeq]", "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": 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": 13, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "O15450;Q5EGN3;Q6NTE6;Q96FT1;Q9BU60", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0032183 SUMO binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006364 rRNA processing;GO:0071391 cellular response to estrogen stimulus;GO:0000448 cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "Q8IZL8-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60674-1", "uniprot_id": [ { "id": "JAK2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60674", "type": "external" } ], "mass": 130674.0, "length": 1132, "protein_name": "Tyrosine-protein kinase JAK2", "gene_name": "JAK2", "organism": "Human", "refseq_name": "tyrosine-protein kinase JAK2 isoform a", "refseq_ac": [ { "id": "NP_001309123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309123", "type": "external" } ], "gene_names_uniprotkb": "JAK2", "gene_names_refseq": "JAK2; JTK10", "protein_names_uniprotkb": "Tyrosine-protein kinase JAK2; 2.7.10.2; JAK-2; Janus kinase 2", "protein_names_refseq": "JAK-2; Janus kinase 2 (a protein tyrosine kinase); tyrosine-protein kinase JAK2 isoform a; tyrosine-protein kinase JAK2", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); familial erythrocytosis 1 (Disease Ontology:DOID:0060652); thrombosis (Disease Ontology:DOID:0060903); myeloid neoplasm (Disease Ontology:DOID:0070004); colorectal carcinoma (Disease Ontology:DOID:0080199); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); stomach cancer (Disease Ontology:DOID:10534); portal hypertension (Disease Ontology:DOID:10762); esophageal carcinoma (Disease Ontology:DOID:1107); heart disease (Disease Ontology:DOID:114); Budd-Chiari syndrome (Disease Ontology:DOID:11512); primary biliary cholangitis (Disease Ontology:DOID:12236); leukemia (Disease Ontology:DOID:1240); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); disease of cellular proliferation (Disease Ontology:DOID:14566); limited scleroderma (Disease Ontology:DOID:1577); cancer (Disease Ontology:DOID:162); hyperuricemia (Disease Ontology:DOID:1920); atherosclerosis (Disease Ontology:DOID:1936); colon cancer (Disease Ontology:DOID:219); essential thrombocythemia (Disease Ontology:DOID:2224); myeloproliferative neoplasm (Disease Ontology:DOID:2226); thrombocytosis (Disease Ontology:DOID:2228); transient cerebral ischemia (Disease Ontology:DOID:224); colon adenocarcinoma (Disease Ontology:DOID:234); hematologic cancer (Disease Ontology:DOID:2531); liver cancer (Disease Ontology:DOID:3571); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung carcinoma (Disease Ontology:DOID:3905); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); bacterial gastritis (Disease Ontology:DOID:4033); myelofibrosis (Disease Ontology:DOID:4971); liver cirrhosis (Disease Ontology:DOID:5082); retinal detachment (Disease Ontology:DOID:5327); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); ankylosing spondylitis (Disease Ontology:DOID:7147); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); polycythemia vera (Disease Ontology:DOID:8997); acute myeloid leukemia (Disease Ontology:DOID:9119); nasopharynx carcinoma (Disease Ontology:DOID:9261); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3717); (R-HSA-1059683); (R-HSA-110056); (R-HSA-112411); (R-HSA-1170546); (R-HSA-1433557); (R-HSA-2586552); (R-HSA-3214858); (R-HSA-512988); (R-HSA-5673000); (R-HSA-5673001); (R-HSA-6785807); (R-HSA-6788467); (R-HSA-6802946); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-69231); (R-HSA-877300); (R-HSA-877312); (R-HSA-8854691); (R-HSA-8984722); (R-HSA-9006335); (R-HSA-9020591); (R-HSA-9020933); (R-HSA-9020956); (R-HSA-9027276); (R-HSA-9027277); (R-HSA-9027283); (R-HSA-9027284); (R-HSA-912526); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9670439); (R-HSA-9674555); (R-HSA-9679191); (R-HSA-9705462); (R-HSA-9732724); (R-HSA-982772); (R-HSA-983231); (R-HSA-9958825)", "pathway_count": 40, "publication_count": 1360, "publication_id_list": 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"class_list": "", "function": "AIM2 inflammasome regulated by the IFN-gamma/JAK2/STAT1 pathway promotes activation and pyroptosis of monocytes in Coronary Artery Disease., [RefSeq, PubMed]; LncRNA BRE-AS1 regulates the JAK2/STAT3-mediated inflammatory activation via the miR-30b-5p/SOC3 axis in THP-1 cells. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-135b-5p promotes gastric carcinogenesis by targeting CLIP4-mediated JAK2/STAT3 signal pathway., [RefSeq, PubMed]; Neutrophil-specific expression of JAK2-V617F or CALRmut induces distinct inflammatory profiles in myeloproliferative neoplasia. Publication Status: Online-Only, [RefSeq, PubMed]; Non-membrane spanning protein tyrosine kinase that phosphorylates type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin receptor (MPL/TPOR); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and multiple interleukins (PubMed:15690087, PubMed:15899890, PubMed:7615558, PubMed:9188471, PubMed:9657743). Functionnally, plays a pivotal role in signal transduction and is involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. Mechanistically, following ligand-binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins (PubMed:15690087, PubMed:9618263). Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, cell stimulation with erythropoietin (EPO) during erythropoiesis leads to JAK2 autophosphorylation, activation, and its association with erythropoietin receptor (EPOR) that becomes phosphorylated in its cytoplasmic domain (PubMed:9657743). Then, STAT5 (STAT5A or STAT5B) is recruited, phosphorylated and activated by JAK2. Once activated, dimerized STAT5 translocates into the nucleus and promotes the transcription of several essential genes involved in the modulation of erythropoiesis. Part of a signaling cascade that is activated by increased cellular retinol and that leads to the activation of STAT5 (STAT5A or STAT5B) (PubMed:21368206). In addition, JAK2 mediates angiotensin-2-induced ARHGEF1 phosphorylation (PubMed:20098430). Plays a role in cell cycle by phosphorylating CDKN1B (PubMed:21423214). Cooperates with TEC through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. In the nucleus, plays a key role in chromatin by specifically mediating phosphorylation of 'Tyr-41' of histone H3 (H3Y41ph), a specific tag that promotes exclusion of CBX5 (HP1 alpha) from chromatin (PubMed:19783980). Up-regulates the potassium voltage-gated channel activity of KCNA3 (PubMed:25644777). Binding of CNTF or the CLCF1/CLF heterodimer to CNTFR leads to IL6ST/gp130-LIFR dimerization followed by activation of JAK1 and JAK2 which in turns phosphorylate IL6ST/gp130 and LIFR (PubMed:11294841). The tyrosine phosphorylated signaling receptors serve in turn as docking proteins for STAT3 (PubMed:11294841). Involved in the oncostatin-M-mediated signaling pathway through both type I OSM receptor complex (heterodimers composed of LIFR and IL6ST) and type II OSM receptor complex (heterodimers composed of OSMR and IL6ST) (PubMed:9188471)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain that binds STAT transcription factors, a pseudokinase domain and a C-terminal tyrosine kinase domain. Cytokine binding induces autophosphorylation and activation of this kinase. This kinase then recruits and phosphorylates signal transducer and activator of transcription (STAT) proteins. Growth factors like TGF-beta 1 also induce phosphorylation and activation of this kinase and translocation of downstream STAT proteins to the nucleus where they influence gene transcription. Mutations in this gene are associated with numerous inflammatory diseases and malignancies. This gene is a downstream target of the pleiotropic cytokine IL6 that is produced by B cells, T cells, dendritic cells and macrophages to produce an immune response or inflammation. Disregulation of the IL6/JAK2/STAT3 signalling pathways produces increased cellular proliferation and myeloproliferative neoplasms of hematopoietic stem cells. A nonsynonymous mutation in the pseudokinase domain of this gene disrupts the domains inhibitory effect and results in constitutive tyrosine phosphorylation activity and hypersensitivity to cytokine signalling. This gene and the IL6/JAK2/STAT3 signalling pathway is a therapeutic target for the treatment of excessive inflammatory responses to viral infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 32, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 44, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O14636;O75297", "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": "2.1.1.320", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.320", "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": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "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": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.4.11", "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": "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": "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": "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": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "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": "2.7.1.107", "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": "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" } ], "go_molecular_function": "GO:0005143 interleukin-12 receptor binding;GO:0004672 protein kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0060399 positive regulation of growth hormone receptor signaling pathway;GO:0046425 regulation of receptor signaling pathway via JAK-STAT;GO:0038043 interleukin-5-mediated signaling pathway;GO:0038156 interleukin-3-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 136.3, "record_id": "O60674-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46199-1", "uniprot_id": [ { "id": "IF2M_HUMAN", "url": "https://www.uniprot.org/uniprot/P46199", "type": "external" } ], "mass": 81317.0, "length": 727, "protein_name": "Translation initiation factor IF-2, mitochondrial", "gene_name": "MTIF2", "organism": "Human", "refseq_name": "translation initiation factor IF-2, mitochondrial isoform a precursor", "refseq_ac": [ { "id": "NP_001005369", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005369", "type": "external" } ], "gene_names_uniprotkb": "MTIF2", "gene_names_refseq": "MTIF2", "protein_names_uniprotkb": "Translation initiation factor IF-2, mitochondrial; IF-2(Mt); IF-2Mt; IF2(mt)", "protein_names_refseq": "IF-2mt; translation initiation factor IF-2, mitochondrial isoform a precursor; translation initiation factor IF-2, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:4528); (R-HSA-5368286)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "11237011;12932832;18452278;20068231;21907147;24166409;24715725;26992070;27846572;28510447;28832583;29242379;29557506;30379171;30833945;31154438;31844290;32387766;32488085;32897882;32938616;33129983;33592498;33912179;33968037;34171305;34357683;35051231;35580925;36010968;36241641;37217939;7829522", "class_list": "", "function": "During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. [provided by RefSeq, Mar 2016]., [RefSeq]; MTIF2 impairs 5 fluorouracil-mediated immunogenic cell death in hepatocellular carcinoma in vivo: Molecular mechanisms and therapeutic significance., [RefSeq, PubMed]; Mitochondrial translation initiation factor that promotes binding of formylmethionyl-tRNA to the 30S ribosomal subunits (By similarity). Also involved in the hydrolysis of GTP during the formation of the 70S ribosomal complex (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This study identified a novel GWS association (1.17 x 10(-10)) mapped to chromosome 2 at rs1437396, between MTIF2 and CCDC88A, across all of the EA and AA cohorts., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6W5D0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0043024 ribosomal small subunit binding;GO:0008135 translation factor activity, RNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0032790 ribosome disassembly;GO:0070124 mitochondrial translational initiation;GO:0001731 formation of translation preinitiation complex", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P46199-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y691-1", "uniprot_id": [ { "id": "KCMB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y691", "type": "external" } ], "mass": 27130.0, "length": 235, "protein_name": "Calcium-activated potassium channel subunit beta-2", "gene_name": "KCNMB2", "organism": "Human", "refseq_name": "calcium-activated potassium channel subunit beta-2", "refseq_ac": [ { "id": "NP_001265840", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265840", "type": "external" } ], "gene_names_uniprotkb": "KCNMB2", "gene_names_refseq": "KCNMB2", "protein_names_uniprotkb": "Calcium-activated potassium channel subunit beta-2; BK channel subunit beta-2; BKbeta2; Calcium-activated potassium channel, subfamily M subunit beta-2; Charybdotoxin receptor subunit beta-2; Hbeta2; Hbeta3; K(VCA)beta-2; Maxi K channel subunit beta-2; Slo-beta-2", "protein_names_refseq": "BK channel beta subunit 2; BK channel subunit beta-2; MaxiK channel beta 2 subunit; MaxiK channel beta-subunit 2; big potassium channel beta subunit 2; calcium-activated potassium channel subunit beta-2; charybdotoxin receptor subunit beta-2; hCG1646471; hbeta2; k(VCA)beta-2; large conductance calcium-activated potassium channel beta 2 subunit; large-conductance Ca2+-activated K+ channel beta2 subunit; potassium channel subfamily M regulatory beta subunit 2; potassium large conductance calcium-activated channel, subfamily M, beta member 2; slo-beta-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10242); (R-HSA-1296052); (R-HSA-418457)", "pathway_count": 3, "publication_count": 17, "publication_id_list": "10097176;10377337;10692449;10792058;11237011;11517232;12136044;12566540;16990611;19074509;20178789;20859064;23825428;24414257;32265295;34509645;8557689", "class_list": "", "function": "Beta subunits of large-conductance calcium-dependent potassium channels modulate the interface between membrane-spanning and cytosolic domains., [RefSeq, PubMed]; IFN-gamma changed mRNA levels of the BK beta-modulatory proteins KCNMB2 (increased) and KCNMB4 (decreased) as well as leucine-rich repeat-containing protein (LRRC)26 (decreased)., [RefSeq, PubMed]; MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants of this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013]., [RefSeq]; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Acts as a negative regulator that confers rapid and complete inactivation of KCNMA1 channel complex. May participate in KCNMA1 inactivation in chromaffin cells of the adrenal gland or in hippocampal CA1 neurons., [UniProtKB, PubMed, PubMed, UniProtKB, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0008200 ion channel inhibitor activity;GO:0015269 calcium-activated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0019228 neuronal action potential;GO:0001508 action potential;GO:0019229 regulation of vasoconstriction;GO:0006813 potassium ion transport;GO:0005513 detection of calcium ion", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9Y691-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK53-1", "uniprot_id": [ { "id": "ING1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK53", "type": "external" } ], "mass": 46738.0, "length": 422, "protein_name": "Inhibitor of growth protein 1", "gene_name": "ING1", "organism": "Human", "refseq_name": "inhibitor of growth protein 1 isoform E", "refseq_ac": [ { "id": "NP_001254657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254657", "type": "external" } ], "gene_names_uniprotkb": "ING1", "gene_names_refseq": "ING1; p24ING1c; p33ING1b; p33ING1; p33; p47ING1a; p47", "protein_names_uniprotkb": "Inhibitor of growth protein 1", "protein_names_refseq": "growth inhibitor ING1; growth inhibitory protein ING1; inhibitor of growth protein 1 isoform E; inhibitor of growth protein 1; tumor suppressor ING1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); squamous cell carcinoma (Disease Ontology:DOID:1749); carcinoma (Disease Ontology:DOID:305); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520)", "pathway": " (hsa:3621)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10626813;10779953;10807544;10866301;11237011;11481424;16728974;18533182;22419112;25576301;26374642;26758079;26992070;28218747;28228285;28904123;29242379;29485866;29557506;30429286;30779550;31154438;31844290;31848261;32157095;32350084;32488085;32843621;34493070;34685579;34932366;35251023;35580925;37459799;37938771;8944021;9440695", "class_list": "", "function": "CG7379 and ING1 suppress cancer cell invasion by maintaining cell-cell junction integrity., [RefSeq, PubMed]; Component of an histone acetyltransferase complex., [UniProtKB, UniProtKB]; Cooperates with p53/TP53 in the negative regulatory pathway of cell growth by modulating p53-dependent transcriptional activation. Implicated as a tumor suppressor gene., [UniProtKB, PubMed]; ING Tumour Suppressors and ING Splice Variants as Coregulators of the Androgen Receptor Signalling in Prostate Cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; ING1 inhibits Twist1 expression to block EMT and is antagonized by the HDAC inhibitor vorinostat., [RefSeq, PubMed]; MiR-24-3p promotes colon cancer progression by targeting ING1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O00532;O43658;Q53ZR3;Q5T9G8;Q5T9G9;Q5T9H0;Q5T9H1;Q9H007;Q9HD98;Q9HD99;Q9NS83;Q9P0U6;Q9UBC6;Q9UIJ1;Q9UIJ2;Q9UIJ3;Q9UIJ4;Q9UK52", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0140002 histone H3K4me3 reader activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "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:0008285 negative regulation of cell population proliferation;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9UK53-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2F5-1", "uniprot_id": [ { "id": "ICE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2F5", "type": "external" } ], "mass": 247891.0, "length": 2266, "protein_name": "Little elongation complex subunit 1", "gene_name": "ICE1", "organism": "Human", "refseq_name": "little elongation complex subunit 1", "refseq_ac": [ { "id": "NP_056140", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056140", "type": "external" } ], "gene_names_uniprotkb": "ICE1; KIAA0947", "gene_names_refseq": "ICE1; KIAA0947", "protein_names_uniprotkb": "Little elongation complex subunit 1; Interactor of little elongator complex ELL subunit 1", "protein_names_refseq": "interactor of little elongator complex ELL subunit 1; little elongation complex subunit 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23379); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "10022900;11237011;11856838;12414730;12574128;14701755;1535687;16239144;16308568;16901896;17081983;1739980;17924679;18079403;1829677;18452278;18669648;18691976;19007248;19413330;19608861;19664994;19664995;19667075;19690332;19691289;20068231;20457598;2125285;21406692;22137580;22195968;22231121;22252320;22441827;23166507;23186163;23301498;23481700;23932780;24097444;24270878;24275569;24366607;24714562;24997600;25576301;25675981;25892735;26375851;26601658;26992070;27268141;27846572;27862975;28904123;29437277;2944599;29493099;29528287;29557506;30379171;30429286;30484775;30779550;31092671;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34171305;34561969;34932366;35051231;35254053;35289036;35580925;36010968;36215666;36241641;36284347;36581221;37938771;40596516;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968, PubMed:23932780). Specifically acts as a scaffold protein that promotes the LEC complex formation and recruitment and RNA polymerase II occupancy at snRNA genes in subnuclear bodies (PubMed:23932780)., [UniProtKB, PubMed, PubMed]; Multigenerational autosomal dominant inheritance of 5p chromosomal deletions resulting in Cri-du-Chat Syndrome with SEMA5A, CTNND2, and ICE1 deficiencies has been described., [RefSeq, PubMed]; RNAseq studies reveal that depletion of ICE1 globally enhances accumulation and stability of NMD-target mRNAs. Further, our data suggest that ICE1 uses a putative MIF4G domain to interact with exon junction complex (EJC) proteins and promotes the association of the NMD protein UPF3B with the EJC. Publication Status: Online-Only, [RefSeq, PubMed]; The results indicate that p53 interferes with the interaction between ELL/EAF and ICE1 and represses transcription of small nuclear RNA genes by Pol II., [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": 32, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 77, "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": "Q68DE1;Q6ZT40;Q7L587;Q7Z3A9;Q9NTH9", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0008023 transcription elongation factor complex;GO:0016604 nuclear body;GO:0015030 Cajal body;GO:0000791 euchromatin", "go_biological_process": "GO:1905382 positive regulation of snRNA transcription by RNA polymerase II;GO:0090316 positive regulation of intracellular protein transport;GO:0031334 positive regulation of protein-containing complex assembly;GO:0045945 positive regulation of transcription by RNA polymerase III;GO:0042795 snRNA transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q9Y2F5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13563-1", "uniprot_id": [ { "id": "PKD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13563", "type": "external" } ], "mass": 109691.0, "length": 968, "protein_name": "Polycystin-2", "gene_name": "PKD2", "organism": "Human", "refseq_name": "polycystin-2 isoform 1", "refseq_ac": [ { "id": "NP_000288", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000288", "type": "external" } ], "gene_names_uniprotkb": "PKD2; TRPP1; TRPP2", "gene_names_refseq": "APKD2; PC2; PKD2; PKD4; Pc-2; TRPP2", "protein_names_uniprotkb": "Polycystin-2; Autosomal dominant polycystic kidney disease type II protein; PC2; Polycystic kidney disease 2 protein; Polycystwin; R48321; Transient receptor potential cation channel subfamily P member 2", "protein_names_refseq": "autosomal dominant polycystic kidney disease type II protein; polycystic kidney disease 2 (autosomal dominant); polycystin-2 isoform 1; polycystin-2; transient receptor potential cation channel subfamily P member 2", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); polycystic kidney disease (Disease Ontology:DOID:0080322); polycystic kidney disease 2 (Disease Ontology:DOID:0110859); intracranial aneurysm (Disease Ontology:DOID:10941); acute kidney failure (Disease Ontology:DOID:3021); retinal degeneration (Disease Ontology:DOID:8466); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:5311); (R-HSA-5620916)", "pathway_count": 2, "publication_count": 119, "publication_id_list": "10.1101/2023.09.13.557529;10411676;10541293;10760273;10770959;10835625;10913159;11854751;11968093;11991947;12221131;12707387;14742446;14993477;15158452;15692563;15728366;15772804;16038802;16136078;16155582;16192288;16431365;16537653;16551655;16782012;17007872;17030804;17081983;17287340;17574030;17628206;17646400;17956946;17962809;18077418;18635443;18685082;18694932;18695040;18837007;19017632;19139490;19153612;19193631;19297529;19454479;19556541;19651622;19850920;20083215;20308558;20439752;20881056;21115670;21273506;21406692;21550243;21565611;21670214;21775626;22389062;22420621;22433857;22983554;23351793;23390129;23567335;23945166;24190977;24275569;24296415;24990821;25892735;26269590;27071085;27214281;27259053;27768895;27991905;28092368;29508533;29769354;29786170;29899465;30429286;31441214;31806353;31844290;32157095;32332171;32350084;32502341;32938616;33164752;33592498;34171305;34185709;34357683;35051231;35289036;35580925;36215666;36284347;36420836;37074911;37938771;38483987;38527221;39009345;8650545;8954772;9175744;9286709;9326320;9402976;9573526;9819391;9949210", "class_list": "glycogene", "function": "Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease., [RefSeq, PubMed]; Disease-associated missense mutations in the pore loop of polycystin-2 alter its ion channel function in a heterologous expression system., [RefSeq, PubMed]; Forms a nonselective cation channel (PubMed:11854751, PubMed:11991947, PubMed:15692563, PubMed:26269590, PubMed:27071085, PubMed:31441214, PubMed:39009345). Can function as a homotetrameric ion channel or can form heteromer with PKD1 (PubMed:31441214, PubMed:33164752). Displays distinct function depending on its subcellular localization and regulation by its binding partners (PubMed:11854751, PubMed:11991947, PubMed:27214281, PubMed:29899465). In primary cilium functions as a cation channel, with a preference for monovalent cations over divalent cations that allows K(+), Na(+) and Ca(2+) influx, with low selectivity for Ca(2+) (PubMed:27071085). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). In the endoplasmic reticulum, likely functions as a K(+) channel to facilitate Ca(2+) release (By similarity). The heterotetrameric PKD1/PKD2 channel has higher Ca(2+) permeability than homomeric PKD2 channel and acts as a primarily Ca(2+)-permeable channel (PubMed:31441214). Interacts with and acts as a regulator of a number of other channels, such as TRPV4, TRPC1, IP3R, RYR2, ultimately further affecting intracellular signaling, to modulate intracellular Ca(2+) signaling (PubMed:11854751, PubMed:11991947, PubMed:27214281, PubMed:29899465). Together with TRPV4, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). In cardiomyocytes, PKD2 modulates Ca(2+) release from stimulated RYR2 receptors through direct association (By similarity). Also involved in left-right axis specification via its role in sensing nodal flow; forms a complex with PKD1L1 in cilia to facilitate flow detection in left-right patterning (By similarity). Acts as a regulator of cilium length together with PKD1 (By similarity). Mediates systemic blood pressure and contributes to the myogenic response in cerebral arteries though vasoconstriction (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [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": 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": 18, "reported_mutagensis": 43, "reported_glycation": 0, "reported_snv": 1377, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 7, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "O60441;Q15764;Q2M1Q3;Q2M1Q5", "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:0051371 muscle alpha-actinin binding;GO:0015271 outward rectifier potassium channel activity;GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0045180 basal cortex;GO:0034703 cation channel complex;GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0002133 polycystin complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0090279 regulation of calcium ion import;GO:0003127 detection of nodal flow;GO:0072208 metanephric smooth muscle tissue development;GO:0072164 mesonephric tubule development;GO:0072218 metanephric ascending thin limb development", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q13563-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24158-1", "uniprot_id": [ { "id": "PRTN3_HUMAN", "url": "https://www.uniprot.org/uniprot/P24158", "type": "external" } ], "mass": 27807.0, "length": 256, "protein_name": "Myeloblastin", "gene_name": "PRTN3", "organism": "Human", "refseq_name": "myeloblastin precursor", "refseq_ac": [ { "id": "NP_002768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002768", "type": "external" } ], "gene_names_uniprotkb": "PRTN3; MBN", "gene_names_refseq": "ACPA; AGP7; C-ANCA; CANCA; MBN; MBT; NP-4; NP4; P29; PR-3; PR3; PRTN3", "protein_names_uniprotkb": "Myeloblastin; 3.4.21.76; AGP7; C-ANCA antigen; Leukocyte proteinase 3; NP-4; Neutrophil proteinase 4; P29; PR-3; PR3; Wegener autoantigen", "protein_names_refseq": "C-ANCA antigen; Wegener granulomatosis autoantigen; azurophil granule protein 7; leukocyte proteinase 3; myeloblastin precursor; myeloblastin; neutrophil proteinase 4; serine proteinase, neutrophil; wegener autoantigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:5657); (R-HSA-449836); (R-HSA-6798695); (R-HSA-6803157); (R-HSA-9769739)", "pathway_count": 5, "publication_count": 175, "publication_id_list": "10026158;10395686;10438516;11035113;11120840;11237011;11238108;11313366;11389039;11833835;11862315;11971875;12052963;12469119;12493837;12558796;12763937;12907439;13816;1400430;14506276;14709416;14739326;1518849;1522221;15229136;15778384;15826377;15956276;16054449;16161994;1618828;16215847;16237088;16336202;16354652;16354654;16374474;16488976;16492764;16619025;16799473;1681549;1688612;16931762;16940129;17244676;17363965;17502600;17506785;17567961;17598008;17635713;17964057;18021746;18160480;18185531;18462208;18467591;18673279;1902833;19095652;19179970;19254208;19297154;1930190;19818633;2001463;20103720;20180804;2033050;20382864;20395631;20427285;20510021;20668669;20845358;21077276;21193407;2121162;2147944;21716315;21787330;21932952;22144186;22262861;22266279;22327069;2242436;22455996;2258701;22618708;22701042;2271516;22786881;2285532;23202369;23291588;23302724;23426625;23650620;23683607;23744080;2377228;2384594;2404977;24219363;24256734;24315637;24554904;2501794;25075772;2538457;25461571;25596890;25662098;25713144;25855704;2598267;26095744;26148048;26375851;2679910;26992070;27089320;28240246;29419409;29557506;29661776;29741879;29789417;30692621;30918026;31154438;31262782;31291378;31439947;3198760;32387766;3286634;33141586;33392160;34509645;35580925;35672132;36302784;36804380;36804624;36944270;36951953;36990659;3744129;37726033;37766081;38167145;3863104;6323392;7499257;7539799;7615501;7805849;7897245;8144529;8157982;8639781;8692836;8757293;9218519;9422780;9459334;9469622;9523110;9665269;9756476;9924693", "class_list": "", "function": "Elevated first-trimester neutrophil elastase and proteinase 3 increase the risk of gestational diabetes mellitus and adverse fetal outcomes. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of PRTN3 as a novel biomarker for the diagnosis of early gastric cance., [RefSeq, PubMed]; Identification of proteinase 3 autoreactive CD4[+]T cells and their T-cell receptor repertoires in antineutrophil cytoplasmic antibody-associated vasculitis., [RefSeq, PubMed]; N-glycan in the variable region of monoclonal ACPA (CCP-Ab1) promotes the exacerbation of experimental arthritis., [RefSeq, PubMed]; Risk of relapse of ANCA-associated vasculitis among patients homozygous for the proteinase 3 gene Val119Ile polymorphism., [RefSeq, PubMed]; Serine protease that degrades elastin, fibronectin, laminin, vitronectin, and collagen types I, III, and IV (in vitro) (PubMed:2033050, PubMed:28240246, PubMed:3198760). By cleaving and activating receptor F2RL1/PAR-2, enhances endothelial cell barrier function and thus vascular integrity during neutrophil transendothelial migration (PubMed:23202369). Plays a role in neutrophil transendothelial migration, probably when associated with CD177 (PubMed:22266279). Triggers inflammatory processes in neutrophils by interacting with ADGRG3 upstream of F2RL1/PAR2 activation (PubMed:36302784)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 5, "reported_interactions": 0, "missing_score": 8796, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "P15637;P18078;Q4VB08;Q4VB09;Q6LBM7;Q6LBN2;Q9UD25;Q9UQD8", "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:0004252 serine-type endopeptidase activity;GO:0005102 signaling receptor binding;GO:0019899 enzyme binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0044853 plasma membrane raft", "go_biological_process": "GO:0006508 proteolysis;GO:0006509 membrane protein ectodomain proteolysis;GO:0008284 positive regulation of cell population proliferation;GO:0043547 positive regulation of GTPase activity;GO:0050765 negative regulation of phagocytosis", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "P24158-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16298-1", "uniprot_id": [ { "id": "PP2BB_HUMAN", "url": "https://www.uniprot.org/uniprot/P16298", "type": "external" } ], "mass": 59024.0, "length": 524, "protein_name": "Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform", "gene_name": "PPP3CB", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform a", "refseq_ac": [ { "id": "NP_001135825", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135825", "type": "external" } ], "gene_names_uniprotkb": "PPP3CB; CALNA2; CALNB; CNA2", "gene_names_refseq": "CALNA2; CALNB; CNA2; PP2Bbeta; PPP3CB", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform; 3.1.3.16; CAM-PRP catalytic subunit; CNA beta; Calmodulin-dependent calcineurin A subunit beta isoform", "protein_names_refseq": "CAM-PRP catalytic subunit; CNA beta; calcineurin A beta; calcineurin A2; protein phosphatase 3, catalytic subunit, beta isozyme; protein phosphatase from PCR fragment H32; serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform a", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); aortic valve stenosis (Disease Ontology:DOID:1712); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:5532); (R-HSA-180024); (R-HSA-2025928); (R-HSA-2871809); (R-HSA-4086398); (R-HSA-5607763); (R-HSA-9010642)", "pathway_count": 7, "publication_count": 145, "publication_id_list": "10.1101/2023.09.13.557529;10380924;10391246;10391247;10395542;10488343;10588714;10604473;10777564;10858654;10860980;11015615;11015619;11030334;11231878;11237011;11395409;11563835;12015605;12065642;12086864;12471263;12482967;12556497;12573241;12729560;12975316;14704854;14977528;15494017;15545263;15611108;16880514;16920709;1715244;17426020;17502104;17535922;17684012;18296442;18456304;1848109;18488142;19154138;19177143;19536106;19851316;21118996;21903638;22941947;23151663;23256519;23416699;23481700;23632248;23904219;2445721;24715725;2556704;25576301;25645385;25720963;25882844;26154972;26375851;26590425;26794871;27600516;27846572;27862975;28228285;2841328;28514659;28832583;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30294901;30315122;30429286;30524438;30833945;31092671;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32502341;32753672;32897882;32938616;32983136;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34932366;35051231;35154160;35580925;36010968;36284347;37938771;39353739;6087160;6296685;6330098;6501302;7518558;7657645;8576111;8629002;8630736;8631904;8663227;8684469;8799126;9073455;9099992;9106655;9312192;9371714;9389482;9727000", "class_list": "", "function": "Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals (PubMed:19154138, PubMed:25720963, PubMed:26794871, PubMed:32753672). Dephosphorylates TFEB in response to lysosomal Ca(2+) release, resulting in TFEB nuclear translocation and stimulation of lysosomal biogenesis (PubMed:25720963, PubMed:32753672). Dephosphorylates and activates transcription factor NFATC1 (PubMed:19154138). Dephosphorylates and inactivates transcription factor ELK1 (PubMed:19154138). Dephosphorylates DARPP32 (PubMed:19154138). Negatively regulates MAP3K14/NIK signaling via inhibition of nuclear translocation of the transcription factors RELA and RELB (By similarity). May play a role in skeletal muscle fiber type specification (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; PPP3CB overexpression mediates EGFR TKI resistance in lung tumors via calcineurin/MEK/ERK signaling. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 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": 17, "reported_glycation": 0, "reported_snv": 11, "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": "P16299;Q5F2F9;Q8N1F0;Q8N3W4", "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": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "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:0033192 calmodulin-dependent protein phosphatase activity;GO:0005516 calmodulin binding;GO:0019899 enzyme binding;GO:0046983 protein dimerization activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0097720 calcineurin-mediated signaling;GO:0016311 dephosphorylation;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0007612 learning", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "P16298-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IW41-1", "uniprot_id": [ { "id": "MAPK5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IW41", "type": "external" } ], "mass": 54220.0, "length": 473, "protein_name": "MAP kinase-activated protein kinase 5", "gene_name": "MAPKAPK5", "organism": "Human", "refseq_name": "MAP kinase-activated protein kinase 5 isoform 1", "refseq_ac": [ { "id": "NP_003659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003659", "type": "external" } ], "gene_names_uniprotkb": "MAPKAPK5; PRAK", "gene_names_refseq": "MAPKAP-K5; MAPKAPK5; MK-5; MK5; NCFD; PRAK", "protein_names_uniprotkb": "MAP kinase-activated protein kinase 5; 2.7.11.1; MAPK-activated protein kinase 5; MAPKAP kinase 5; MAPKAP-K5; MAPKAPK-5; MK-5; MK5; PRAK; p38-regulated/activated protein kinase", "protein_names_refseq": "MAP kinase-activated protein kinase 5 isoform 1; MAP kinase-activated protein kinase 5; MAPKAP kinase 5; MAPKAPK-5; mitogen-activated protein kinase-activated protein kinase 5; p38-regulated/activated protein kinase", "tax_id": 9606, "disease": "neurocardiofaciodigital syndrome (MONDO:MONDO:0859247)", "pathway": " (hsa:8550); (R-HSA-2559580); (R-HSA-5687128); (R-HSA-6804756)", "pathway_count": 4, "publication_count": 214, "publication_id_list": "10347217;10435622;10470034;10500146;10570149;10604467;10673500;10673501;10708586;10710310;10722742;10772813;10871633;10884347;10975528;11237011;11239457;11447225;11511362;11546806;11551930;11564866;11584266;11740489;11780126;11804587;12064478;12134156;12189133;12193592;12393879;12421820;12435631;12546821;12702766;12808055;12808096;12851404;12914926;12915405;13130464;14507994;14532106;14702041;15053879;15226418;15287722;15538386;15563468;15577943;15866171;15866172;16186825;16322561;16337592;16360641;16371649;16436515;16826196;16971392;16973613;17108107;17161475;17210787;17254968;17255097;17332741;17344414;17344846;17349958;17395714;17395884;17591690;17728103;17765224;17825402;17875933;17947239;18031682;18162290;18235225;18248330;18365017;18490454;18593949;18644862;18669648;18720373;18793328;19121998;19166925;19413330;19451217;19451218;19462008;19473979;19513348;19528227;19593530;19690332;19965871;20227494;20236090;20536836;20543837;20647589;20734105;20849292;20959462;21177870;21317288;21317932;21329875;21329882;21372320;21666810;21986495;22020331;22267219;22279049;22325352;22336108;22505454;22508986;22683641;22800433;23000554;23069990;23186163;23481700;23485397;23676219;23878308;24145406;24309468;24585635;24651460;24874608;25339975;25418920;25576301;25645385;26154972;26992070;27600516;28228285;28252035;28514659;28832583;28855257;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30524438;31844290;32157095;32357974;32387766;32897882;32938616;32983136;33298915;33442026;33537174;33592498;33912179;33968037;33981976;34087483;34171305;34211107;34509645;35051231;35064619;35468721;35575217;35844789;36010968;36241641;36581221;36581449;7535770;7559638;7588633;7799959;7816143;7859739;8001816;8078588;8107774;8259215;8319905;8622669;8622688;8626550;8741839;8774846;8846784;8974401;9030721;9162092;9195981;9529249;9535855;9564042;9628874;9747882;9768359;9824166;9925639", "class_list": "", "function": "Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder., [RefSeq, PubMed]; Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up., [RefSeq, PubMed]; MAPKAPK5-AS1 drives the progression of hepatocellular carcinoma via regulating miR-429/ZEB1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; TLK1-mediated MK5-S354 phosphorylation drives prostate cancer cell motility and may signify distinct pathologies., [RefSeq, PubMed]; The TTYH3/MK5 Positive Feedback Loop regulates Tumor Progression via GSK3-beta/beta-catenin signaling in HCC. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]., [RefSeq]; Tumor suppressor serine/threonine-protein kinase involved in mTORC1 signaling and post-transcriptional regulation. Phosphorylates FOXO3, ERK3/MAPK6, ERK4/MAPK4, HSP27/HSPB1, p53/TP53 and RHEB. Acts as a tumor suppressor by mediating Ras-induced senescence and phosphorylating p53/TP53. Involved in post-transcriptional regulation of MYC by mediating phosphorylation of FOXO3: phosphorylation of FOXO3 leads to promote nuclear localization of FOXO3, enabling expression of miR-34b and miR-34c, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent MYC translation. Acts as a negative regulator of mTORC1 signaling by mediating phosphorylation and inhibition of RHEB. Part of the atypical MAPK signaling via its interaction with ERK3/MAPK6 or ERK4/MAPK4: the precise role of the complex formed with ERK3/MAPK6 or ERK4/MAPK4 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPK (ERK3/MAPK6 or ERK4/MAPK4), ERK3/MAPK6 (or ERK4/MAPK4) is phosphorylated and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK3/MAPK6 (or ERK4/MAPK4). Mediates phosphorylation of HSP27/HSPB1 in response to PKA/PRKACA stimulation, inducing F-actin rearrangement., [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": 16, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KVA5;O60491;Q86X46;Q9BVX9;Q9UG86", "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:0009931 calcium-dependent protein serine/threonine kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0051019 mitogen-activated protein kinase binding", "go_cellular_component": "GO:0032156 septin cytoskeleton;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0090400 stress-induced premature senescence;GO:0006417 regulation of translation;GO:0007165 signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:1901796 regulation of signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "Q8IW41-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IY47-1", "uniprot_id": [ { "id": "KBTB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IY47", "type": "external" } ], "mass": 71331.0, "length": 623, "protein_name": "Kelch repeat and BTB domain-containing protein 2", "gene_name": "KBTBD2", "organism": "Human", "refseq_name": "kelch repeat and BTB domain-containing protein 2", "refseq_ac": [ { "id": "NP_056298", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056298", "type": "external" } ], "gene_names_uniprotkb": "KBTBD2; BKLHD1; CGI-73; KIAA1489", "gene_names_refseq": "BKLHD1; KBTBD2", "protein_names_uniprotkb": "Kelch repeat and BTB domain-containing protein 2; BTB and kelch domain-containing protein 1", "protein_names_refseq": "BTB and kelch domain containing 1; BTB and kelch domain-containing protein 1; kelch repeat and BTB (POZ) domain containing 2; kelch repeat and BTB domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:25948)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;19690332;25576301;25645385;25892735;26992070;27397612;27708159;27920218;28218747;28832583;28834231;29242379;29493099;29557506;29632711;30315122;30379171;30429286;30620550;30833945;31154438;31844290;32157095;32350084;32357974;32488085;32502341;32897882;32938616;33123756;33141586;33298915;33592498;33912179;33968037;34087483;34171305;35051231;35318648;35561310;35580925;36010968;37938771;38332366", "class_list": "", "function": "Dynamic molecular architecture and substrate recruitment of cullin3-RING E3 ligase CRL3[KBTBD2]., [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of the insulin signaling pathway, modulating insulin sensitivity by limiting PIK3R1/p85alpha abundance in adipocytes. Targets PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase (PI3K), for 'Lys-48'-linked polyubiquitination and proteasome-mediated degradation., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K9T7;Q86Y62;Q9P239;Q9UFM7;Q9Y382", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:1900076 regulation of cellular response to insulin stimulus;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0000209 protein polyubiquitination;GO:0070936 protein K48-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8IY47-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3MIP1-1", "uniprot_id": [ { "id": "IPIL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3MIP1", "type": "external" } ], "mass": 58446.0, "length": 535, "protein_name": "Inositol 1,4,5-trisphosphate receptor-interacting protein-like 2", "gene_name": "ITPRIPL2", "organism": "Human", "refseq_name": "inositol 1,4,5-trisphosphate receptor-interacting protein-like 2 precursor", "refseq_ac": [ { "id": "NP_001030013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001030013", "type": "external" } ], "gene_names_uniprotkb": "ITPRIPL2", "gene_names_refseq": "D1C; ITPRIPL2", "protein_names_uniprotkb": "Inositol 1,4,5-trisphosphate receptor-interacting protein-like 2", "protein_names_refseq": "DANGER family member 1C; inositol 1,4,5-triphosphate receptor-interacting protein-like 2; inositol 1,4,5-trisphosphate receptor interacting protein like 2; inositol 1,4,5-trisphosphate receptor-interacting protein-like 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:162073)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "20068231;25502872;25576301;27862975;29331515;30429286;30484775;30833945;31154438;31844290;31848261;32157095;32161166;32350084;32938616;33392160;33592498;33936100;33968037;34171305;35051231;35318648;36010968;36241641;36284347", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q3MIP1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BY2-1", "uniprot_id": [ { "id": "MOAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BY2", "type": "external" } ], "mass": 39513.0, "length": 351, "protein_name": "Modulator of apoptosis 1", "gene_name": "MOAP1", "organism": "Human", "refseq_name": "modulator of apoptosis 1", "refseq_ac": [ { "id": "NP_071434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071434", "type": "external" } ], "gene_names_uniprotkb": "MOAP1; PNMA4", "gene_names_refseq": "MAP-1; MOAP1; PNMA4", "protein_names_uniprotkb": "Modulator of apoptosis 1; MAP-1; MAP1; Paraneoplastic antigen Ma4", "protein_names_refseq": "MAP1; modulator of apoptosis 1; paraneoplastic Ma antigen family member 4; paraneoplastic antigen Ma4; paraneoplastic antigen like 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:64112)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11060313;15949439;16199525;16344548;19100260;19366867;22529100;23481700;25576301;25645385;25802875;25880248;26154972;26375851;26992070;27846572;27920218;28228285;28832583;28834231;28855257;28904123;29242379;29393594;29557506;29632046;29632711;30315122;30410026;30429286;30779550;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33298915;33393215;33537174;33592498;33783314;33968037;34087483;34171305;34357660;34509645;35008453;35051231;35561310;35580925;36010968;36241641;36284347;36724555;37938771", "class_list": "", "function": "Human Cytomegalovirus miR-UL70-3p Downregulates the H2O2-Induced Apoptosis by Targeting the Modulator of Apoptosis-1 (MOAP1). Publication Status: Online-Only, [RefSeq, PubMed]; RASSF1A and MAP-1 are important components between death receptors and the apoptotic machenery., [RefSeq, PubMed]; RASSF1A is a tumor suppressor that activates Bax via MOAP-1, [RefSeq, PubMed]; Retrotransposon-derived protein that forms virion-like capsids (By similarity). Acts as an effector of BAX during apoptosis: enriched at outer mitochondria membrane and associates with BAX upon induction of apoptosis, facilitating BAX-dependent mitochondrial outer membrane permeabilization and apoptosis (PubMed:11060313, PubMed:16199525). Required for death receptor-dependent apoptosis (PubMed:11060313). When associated with RASSF1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation (PubMed:15949439). Also promotes autophagy: promotes phagophore closure via association with ATG8 proteins (PubMed:33783314). Acts as an inhibitor of the NFE2L2/NRF2 pathway via interaction with SQSTM1: interaction promotes dissociation of SQSTM1 inclusion bodies that sequester KEAP1, relieving inactivation of the BCR(KEAP1) complex (PubMed:33393215)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Structural evidence that MOAP1 and PEG10 are derived from retrovirus/retrotransposon Gag proteins., [RefSeq, PubMed]; The BAX-binding protein MOAP1 associates with LC3 and promotes closure of the phagophore., [RefSeq, PubMed]; The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been shown to mediate caspase-dependent apoptosis. [provided by RefSeq, Jul 2008]., [RefSeq]; Tripartite motif-containing 68-stabilized modulator of apoptosis-1 retards the proliferation and metastasis of lung cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "B2RDF6;Q9H833;Q9HAS1", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0097190 apoptotic signaling pathway;GO:0006914 autophagy;GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q96BY2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6S0-1", "uniprot_id": [ { "id": "YTDC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6S0", "type": "external" } ], "mass": 160248.0, "length": 1430, "protein_name": "3'-5' RNA helicase YTHDC2", "gene_name": "YTHDC2", "organism": "Human", "refseq_name": "3'-5' RNA helicase YTHDC2 isoform 1", "refseq_ac": [ { "id": "NP_073739", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073739", "type": "external" } ], "gene_names_uniprotkb": "YTHDC2", "gene_names_refseq": "CAHL; YTHDC2; hYTHDC2", "protein_names_uniprotkb": "3'-5' RNA helicase YTHDC2; 3.6.4.13; YTH domain-containing protein 2; hYTHDC2", "protein_names_refseq": "3'-5' RNA helicase YTHDC2 isoform 1; 3'-5' RNA helicase YTHDC2; CsA-associated helicase-like protein; YTH domain containing 2; probable ATP-dependent RNA helicase YTHDC2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64848); (R-HSA-9930044)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17174896;17412707;18669648;19690332;20934997;21559518;21705430;21855801;23186163;23301498;23481700;24397554;24714562;24715725;25418920;25578728;25645385;25880248;25892735;26154972;26318451;26375851;26728094;26992070;27434818;27600516;27846572;27862975;27871484;27920218;28510447;28832583;28834231;28904123;29033321;29242379;29298432;29437277;29493099;29557506;29906447;29970596;30315122;30410026;30429286;30779550;31217245;31472957;31799605;31844290;31950173;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33717175;33767452;33912179;33913806;33968037;33981976;34087483;34171305;34185709;34229054;34405274;34509645;35051231;35132862;35580925;35705054;36010968;36215666;36284347;36581221;37162682;37474847;37875486;37938771;38129673;38190286;39223386;39531497", "class_list": "", "function": "3'-5' RNA helicase that plays a key role in the male and female germline by promoting transition from mitotic to meiotic divisions in stem cells (PubMed:26318451, PubMed:29033321, PubMed:29970596). Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs, a modification present at internal sites of mRNAs and some non-coding RNAs that plays a role in the efficiency of RNA processing and stability (PubMed:26318451, PubMed:29033321). Essential for ensuring a successful progression of the meiotic program in the germline by regulating the level of m6A-containing RNAs (By similarity). Acts by binding and promoting degradation of m6A-containing mRNAs: the 3'-5' RNA helicase activity is required for this process and RNA degradation may be mediated by XRN1 exoribonuclease (PubMed:29033321). Required for both spermatogenesis and oogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; A homozygous missense variant in YTHDC2 induces azoospermia in two siblings. Publication Status: Online-Only, [RefSeq, PubMed]; CAHL is a CsA associated helicase-like protein, which would form trimer complex with cyclophilin B and NS5B of HCV. Publication Status: Online-Only, [RefSeq, PubMed]; Crosstalk between RNA m[6]A and DNA methylation regulates transposable element chromatin activation and cell fate in human pluripotent stem cells., [RefSeq, PubMed]; The m6A Reader YTHDC2 Suppresses Lung Adenocarcinoma Tumorigenesis by Destabilizing MRPL12., [RefSeq, PubMed]; The m[6]A reader YTHDC2 regulates UVB-induced DNA damage repair and histone modification., [RefSeq, PubMed]; This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]., [RefSeq]; YTHDC2 Retards Cell Proliferation and Triggers Apoptosis in Papillary Thyroid Cancer by Regulating CYLD-Mediated Inactivation of Akt 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": 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": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 37, "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": "B2RP66", "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": "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": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.1.26.-", "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:0070063 RNA polymerase binding;GO:0004386 helicase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0048471 perinuclear region of cytoplasm;GO:0035770 ribonucleoprotein granule", "go_biological_process": "GO:0044829 host-mediated activation of viral genome replication;GO:0034612 response to tumor necrosis factor;GO:0007286 spermatid development;GO:0070555 response to interleukin-1;GO:0048599 oocyte development", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9H6S0-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NB15-2", "uniprot_id": [ { "id": "ZN511_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NB15", "type": "external" } ], "mass": 28265.0, "length": 252, "protein_name": "Zinc finger protein 511", "gene_name": "ZNF511", "organism": "Human", "refseq_name": "zinc finger protein 511", "refseq_ac": [ { "id": "NP_665805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_665805", "type": "external" } ], "gene_names_uniprotkb": "ZNF511", "gene_names_refseq": "ZNF511; Zfp511", "protein_names_uniprotkb": "Zinc finger protein 511", "protein_names_refseq": "zinc finger protein 511", "tax_id": 9606, "disease": "", "pathway": " (hsa:118472)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "24129315;29557506;31844290;32157095;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33537174;33592498;33691108;33968037;34087483;34405274;34509645;35051231;36010968", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8L5;Q8WUP1;Q96BV2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8NB15-2", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P80294-1", "uniprot_id": [ { "id": "MT1H_HUMAN", "url": "https://www.uniprot.org/uniprot/P80294", "type": "external" } ], "mass": 6039.0, "length": 61, "protein_name": "Metallothionein-1H", "gene_name": "MT1H", "organism": "Human", "refseq_name": "metallothionein-1H", "refseq_ac": [ { "id": "NP_005942", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005942", "type": "external" } ], "gene_names_uniprotkb": "MT1H", "gene_names_refseq": "MT-0; MT-1H; MT-IH; MT1H; MT1", "protein_names_uniprotkb": "Metallothionein-1H; MT-0; MT-1H; MT-IH; Metallothionein-0; Metallothionein-IH", "protein_names_refseq": "metallothionein-0; metallothionein-1H; metallothionein-IH; testicular tissue protein Li 123", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); transient cerebral ischemia (Disease Ontology:DOID:224); median neuropathy (Disease Ontology:DOID:571)", "pathway": " (hsa:4496); (R-HSA-5661231)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10542048;10716985;10830841;11237011;11994011;12072966;12911326;12963354;1425708;15033980;15698955;15736926;16984198;17224279;17388808;17389590;18157556;18429853;18454142;18533113;19425569;20463663;20551211;20711450;21320589;22242602;22283439;22823575;22982309;23086305;23506369;23523794;24662736;24973778;28241806;37074911;8049263;8119276", "class_list": "", "function": "Increases in MT gene expression and intracellular zinc levels may contribute directly to maintenance of an immune-activated monocyte by mediating an increased resistance to apoptosis during active HIV-1 viremia. Erratum:[J Leukoc Biol. 2010 Nov;88(5):1061. Kossevkov, Andrew V [corrected to Kossenkov, Andrew V]], [RefSeq, PubMed]; MT1H was down-regulated in renal cell carcinogenesis., [RefSeq, PubMed]; Metallothioneins have a high content of cysteine residues that bind various heavy metals., [UniProtKB, UniProtKB]; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids., [UniProtKB]; Results show that MT1H is downregulated in TCGA dataset and a panel of 12 paired tumor/non-tumor tissues. Ectopic overexpression of MT1H in HepG2 and Hep3B cells inhibited cell proliferation, invasion, and migration through inhibiting Wnt/beta-catenin pathway. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 7, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 3, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RUY6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0071276 cellular response to cadmium ion;GO:0071280 cellular response to copper ion;GO:0010273 detoxification of copper ion;GO:0006882 intracellular zinc ion homeostasis;GO:0071294 cellular response to zinc ion", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "P80294-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13640-1", "uniprot_id": [ { "id": "MT1G_HUMAN", "url": "https://www.uniprot.org/uniprot/P13640", "type": "external" } ], "mass": 6141.0, "length": 62, "protein_name": "Metallothionein-1G", "gene_name": "MT1G", "organism": "Human", "refseq_name": "metallothionein-1G isoform 2", "refseq_ac": [ { "id": "NP_001288196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288196", "type": "external" } ], "gene_names_uniprotkb": "MT1G; MT1K; MT1M", "gene_names_refseq": "MT1G; MT1K; MT1", "protein_names_uniprotkb": "Metallothionein-1G; MT-1G; MT-1K; MT-IG; Metallothionein-1K; Metallothionein-IG", "protein_names_refseq": "MT-1G; MT-1K; MT-IG; metallothionein-1G isoform 2; metallothionein-1K; metallothionein-IG", "tax_id": 9606, "disease": "", "pathway": " (hsa:4495); (R-HSA-5661231)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10542048;10716985;10830841;11237011;11994011;12072966;12911326;12963354;15033980;15698955;15736926;16984198;17224279;17388808;17389590;18157556;18429853;18454142;18533113;19425569;20463663;20711450;21320589;22242602;22283439;22823575;22982309;23086305;23506369;23523794;2444457;24973778;33537082;33653779;3403543;36999424;37074911;38747739;38906969;8119276", "class_list": "", "function": "Bioinformatics analysis and validation of mesenchymal stem cells related gene MT1G in osteosarcoma., [RefSeq, PubMed]; MT1G Regulates c-MYC/P53 Signal to Inhibit Proliferation, Invasion and Migration and Promote Apoptosis in Colon Cancer Cells., [RefSeq, PubMed]; MT1G induces lipid droplet accumulation through modulation of H3K14 trimethylation accelerating clear cell renal cell carcinoma progression., [RefSeq, PubMed]; Metallothionein-1G suppresses pancreatic cancer cell stemness by limiting activin A secretion via NF-kappaB inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids., [UniProtKB, UniProtKB, UniProtKB]; Upregulation of Metallothionein-1G Accelerates G1/S Transition in the Growth Phase of Acute Promyelocytic Leukemia NB4 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": 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": 6, "reported_interactions": 0, "missing_score": 8600, "biomarker_type": "", "glycan_count": 11, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P80296", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0042117 monocyte activation;GO:0035924 cellular response to vascular endothelial growth factor stimulus;GO:0071276 cellular response to cadmium ion;GO:0071280 cellular response to copper ion;GO:0010273 detoxification of copper ion", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "P13640-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPI9-1", "uniprot_id": [ { "id": "KCJ16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPI9", "type": "external" } ], "mass": 47949.0, "length": 418, "protein_name": "Inward rectifier potassium channel 16", "gene_name": "KCNJ16", "organism": "Human", "refseq_name": "inward rectifier potassium channel 16 isoform b", "refseq_ac": [ { "id": "NP_001257351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257351", "type": "external" } ], "gene_names_uniprotkb": "KCNJ16", "gene_names_refseq": "BIR9; HKTD; KCNJ16; KIR5.1", "protein_names_uniprotkb": "Inward rectifier potassium channel 16; Inward rectifier K(+) channel Kir5.1; Potassium channel, inwardly rectifying subfamily J member 16", "protein_names_refseq": "inward rectifier K(+) channel Kir5.1; inward rectifier K+ channel KIR5.1; inward rectifier potassium channel 16 isoform b; inward rectifier potassium channel 16; potassium channel, inwardly rectifying subfamily J member 16; potassium voltage-gated channel subfamily J member 16", "tax_id": 9606, "disease": "metabolic acidosis (Disease Ontology:DOID:0050758); EAST syndrome (Disease Ontology:DOID:0060484); hypokalemia (Disease Ontology:DOID:4500); hypokalemic tubulopathy and deafness (MONDO:MONDO:0859167)", "pathway": " (hsa:3773); (R-HSA-1296041); (R-HSA-1296067); (R-HSA-997272)", "pathway_count": 4, "publication_count": 17, "publication_id_list": "11060447;11237011;11240146;17185339;19221509;20453851;20655490;24561201;28577853;29557506;30833945;31154438;32502341;33811157;35051231;35809813;35848616", "class_list": "", "function": "Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness., [RefSeq, PubMed]; HNF1beta is a transcriptional activator of Kcnj16. Hence, patients with HNF1beta mutations may have reduced Kir5.1 activity in the kidney, resulting in hypokalemia and hypomagnesemia., [RefSeq, PubMed]; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ16 may be involved in the regulation of fluid and pH balance. In the kidney, together with KCNJ10, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules (PubMed:24561201)., [UniProtKB, PubMed]; Kir5.1 channels: potential role in epilepsy and seizure disorders. Review article, [RefSeq, PubMed]; LncRNA XIST is associated with preeclampsia and mediates trophoblast cell invasion via miR-340-5p/KCNJ16 signaling pathway., [RefSeq, PubMed]; Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0008076 voltage-gated potassium channel complex;GO:0016020 membrane", "go_biological_process": "GO:0006813 potassium ion transport;GO:1990573 potassium ion import across plasma membrane;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9NPI9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5DT21-1", "uniprot_id": [ { "id": "ISK9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5DT21", "type": "external" } ], "mass": 9756.0, "length": 86, "protein_name": "Serine protease inhibitor Kazal-type 9", "gene_name": "SPINK9", "organism": "Human", "refseq_name": "serine protease inhibitor Kazal-type 9 precursor", "refseq_ac": [ { "id": "NP_001035523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035523", "type": "external" } ], "gene_names_uniprotkb": "SPINK9; LEKTI2", "gene_names_refseq": "LEKTI2; SPINK9", "protein_names_uniprotkb": "Serine protease inhibitor Kazal-type 9; Lymphoepithelial Kazal-type-related inhibitor 2", "protein_names_refseq": "lymphoepithelial Kazal-type-related inhibitor 2; serine protease inhibitor Kazal-type 9 precursor; serine protease inhibitor Kazal-type 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:643394); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21899598;21997417;22505519;23629652;24441102;25926655;26390218;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "A new KLK5-inhibiting peptide encoded by a member of the Spink family, designated as Spink9 located on chromosome 5p33.1, was identified., [RefSeq, PubMed]; MSPINK12 shows an inhibitory activity against murine keratinocyte-derived trypsin-like proteolytic activity, and thus, appears orthologous to human LEKTI2 and may play an role in the regulation of epithelial cell functions., [RefSeq, PubMed]; Possible role for SPINK9 in the site-specific epidermal differentiation of palms and soles, [RefSeq, PubMed]; SPINK9 has a role in stimulating metalloprotease/EGFR-dependent keratinocyte migration by purinergic receptor pathway activation, [RefSeq, PubMed]; Serine protease inhibitor which specifically inhibits KLK5. May contribute to the regulation of the desquamation process in skin by inhibiting KLK5., [UniProtKB, PubMed, PubMed]; The inhibition and binding of different SPINK9 variants towards KLK5, KLK7, KLK8 and KLK14, [RefSeq, PubMed]; The protein encoded by this gene is a Kazal-type serine protease inhibitor that appears to specifically target kallikrein-related peptidase 5 (KLK5) in the palmo-plantar epidermis. KLK5 is an important initiator of skin desquamation, so the encoded protease inhibitor may regulate skin differentiation in the palms of hands and soles of feet. This cationic protein has also been shown to promote keratinocyte migration by activation of the epidermal growth factor receptor (EGFR). [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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RPN9", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0045861 negative regulation of proteolysis", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q5DT21-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1A4Y4-1", "uniprot_id": [ { "id": "IRGM_HUMAN", "url": "https://www.uniprot.org/uniprot/A1A4Y4", "type": "external" } ], "mass": 20142.0, "length": 181, "protein_name": "Immunity-related GTPase family M protein", "gene_name": "IRGM", "organism": "Human", "refseq_name": "immunity-related GTPase family M protein isoform 2", "refseq_ac": [ { "id": "NP_001139277", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139277", "type": "external" } ], "gene_names_uniprotkb": "IRGM; IFI1; IRGM1; LRG47", "gene_names_refseq": "IBD19; IFI1; IRGM1; IRGM; LRG-47; LRG47", "protein_names_uniprotkb": "Immunity-related GTPase family M protein; 3.6.5.-; Immunity-related GTPase family M protein 1; Interferon-inducible protein 1; LPS-stimulated RAW 264.7 macrophage protein 47 homolog; LRG-47", "protein_names_refseq": "LPS-stimulated RAW 264.7 macrophage protein 47 homolog; LRG-47-like protein; immunity-related GTPase family M protein isoform 2; immunity-related GTPase family M protein; immunity-related GTPase family, M1; interferon-inducible protein 1", "tax_id": 9606, "disease": "inflammatory bowel disease 19 (Disease Ontology:DOID:0110890); tuberculosis (Disease Ontology:DOID:399); Mycobacterium tuberculosis, susceptibility (MONDO:MONDO:0000070)", "pathway": " (hsa:345611)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;16277747;16888103;17554261;17921695;19165925;19174780;19266026;19750224;20106866;20737271;21102437;21278745;25891078;28389568;29242379;29420192;30612879;32715615;32753672;32939830;34467632;36221902;37558924;37705061;37993085;38514898", "class_list": "", "function": "(Microbial infection) Following infection by hepatitis C virus (HCV), promotes HCV-triggered membrane remodeling, leading to autophagy and Golgi fragmentation, a step required for HCV replication., [UniProtKB, PubMed]; Acts as a positive regulator of mitophagy in response to intracellular mycobacteria infection: specifically binds cardiolipin, leading to its translocation to mitochondria, where it promotes affected mitochondrial fission and mitophagy., [UniProtKB, PubMed]; Genetic evidence implicates IRGM defects in the early immune response in individuals with Crohn's disease., [RefSeq, PubMed]; IRGM is a novel regulator of PD-L1 via promoting S6K1-mediated phosphorylation of YBX1 in hepatocellular carcinoma., [RefSeq, PubMed]; IRGM is significantly associated with Crohn disease., [RefSeq, PubMed]; Identified a function for IRGM in the control of intracellular pathogens and report that IRGM plays a role in autophagy and in the reduction of intracellular Mycobacterium var. bovis BCG load, [RefSeq, PubMed]; Immunity-related GTPase that plays important roles in innate immunity and inflammatory response (PubMed:16888103, PubMed:19165925, PubMed:25891078). Acts as a dynamin-like protein that binds to intracellular membranes and promotes remodeling and trafficking of those membranes (By similarity). Required for clearance of acute protozoan and bacterial infections by interacting with autophagy and lysosome regulatory proteins, thereby promoting the fusion of phagosomes with lysosomes for efficient degradation of cargo including microbes (PubMed:16888103, PubMed:25891078, PubMed:29420192, PubMed:32939830). Regulates selective autophagy, including xenophagy and mitophagy, both directly and indirectly (PubMed:16888103, PubMed:25891078, PubMed:29420192, PubMed:32939830). Directly regulates autophagy by acting as a molecular adapter that promotes the coassembly of the core autophagy machinery to mediate antimicrobial defense: IRGM (1) activates AMPK, which in turn phosphorylates ULK1 and BECN1 to induce autophagy, (2) promotes the coassembly of ULK1 and BECN1, enhancing BECN1-interacting partners and (3) influences the composition of the BECN1 complex, by competing with the negative regulators BCL2 and RUBCN, to trigger autophagy (PubMed:25891078). Also activates autophagy by promoting recruitment of STX17 to autophagosomes (PubMed:29420192). In collaboration with ATG8 proteins, regulate lysosomal biogenesis, a fundamental process for any autophagic pathway, by promoting TFEB dephosphorylation (PubMed:32753672). Also modulates autophagy by assisting with autophagosome formation and preventing lysosomal deacidification (By similarity). While activating autophagy, acts as a key negative regulator of the inflammatory and interferon responses both by (1) promoting mitophagy and (2) mediating autophagy-dependent degradation of effectors of the inflammatory response (PubMed:30612879, PubMed:32715615, PubMed:36221902). Promotes degradation of damaged and IFNG/IFN-gamma-stressed mitochondria via mitophagy, preventing cytosolic release of ligands that activate inflammation (PubMed:32715615). Acts as a suppressor of inflammation by promoting recruitment of inflammation effectors, such as CGAS, RIGI/RIG-I and NLRP3, to autophagosome membranes, leading to their SQSTM1/p62-dependent autophagic degradation (PubMed:30612879, PubMed:32715615). Also directly inhibits assembly of the NLRP3 inflammasome by preventing the association between NLRP3 and PYCARD (PubMed:30612879). Acts as a negative regulator of antiviral innate immune response by suppressing the RIPK2-dependent pro-inflammatory response: mediates recruitment of RIPosomes, composed of RIPK2 and NOD1 or NOD2, to autophagosome membranes, promoting their SQSTM1/p62-dependent autophagic degradation (PubMed:34467632, PubMed:36221902)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Impact of IRGM gene promoter polymorphisms on susceptibility to chronic HBV infection., [RefSeq, PubMed]; Race-specific association of an IRGM risk allele with cytokine expression in human subjects. Publication Status: Online-Only, [RefSeq, PubMed]; TAOK3 Facilitates Esophageal Squamous Cell Carcinoma Progression and Cisplatin Resistance Through Augmenting Autophagy Mediated by IRGM., [RefSeq, PubMed]; The unusual evolutionary history of the IRGM locus and the important role of the IRGM gene in autophagy and Crohn's disease in response to pathogenesis. Review article, [RefSeq, PubMed]; This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "B3VEX0;H0YBM2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0043539 protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0000421 autophagosome membrane;GO:0001891 phagocytic cup;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0070431 nucleotide-binding oligomerization domain containing 2 signaling pathway;GO:0043032 positive regulation of macrophage activation;GO:1901526 positive regulation of mitophagy;GO:0000045 autophagosome assembly", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "A1A4Y4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00995-1", "uniprot_id": [ { "id": "ISK1_HUMAN", "url": "https://www.uniprot.org/uniprot/P00995", "type": "external" } ], "mass": 8507.0, "length": 79, "protein_name": "Serine protease inhibitor Kazal-type 1", "gene_name": "SPINK1", "organism": "Human", "refseq_name": "serine protease inhibitor Kazal-type 1 precursor", "refseq_ac": [ { "id": "NP_003113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003113", "type": "external" } ], "gene_names_uniprotkb": "SPINK1; PSTI", "gene_names_refseq": "PCTT; PSTI; SPINK1; Spink3; TATI; TCP", "protein_names_uniprotkb": "Serine protease inhibitor Kazal-type 1; Pancreatic secretory trypsin inhibitor; TATI; Tumor-associated trypsin inhibitor", "protein_names_refseq": "pancreatic secretory trypsin inhibitor; serine protease inhibitor Kazal-type 1 precursor; serine protease inhibitor, Kazal type 1; tumor-associated trypsin inhibitor", "tax_id": 9606, "disease": "chronic pancreatitis (Disease Ontology:DOID:0051065); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); ovary epithelial cancer (Disease Ontology:DOID:2152); transitional cell carcinoma (Disease Ontology:DOID:2671); endometriosis (Disease Ontology:DOID:289); cervical adenocarcinoma (Disease Ontology:DOID:3702); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); pancreatitis (Disease Ontology:DOID:4989); tropical pancreatitis (MONDO:MONDO:0011986)", "pathway": " (hsa:6690); (R-HSA-9925561)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10691414;10835640;11237011;11866271;12011155;12187509;12649567;12974284;14688470;15084977;15764155;1613792;18452278;18617776;19372376;19593166;19888199;21375584;27358244;29557506;2961612;32387766;3501289;36555366;36883543;37305325;3877508;38781741;7142173;843082;8433367", "class_list": "", "function": "High expression of serine protease inhibitor kazal type 1 predicts poor prognosis and promotes the progression and invasion of oral tongue squamous cell carcinoma., [RefSeq, PubMed]; In the male reproductive tract, binds to sperm heads where it modulates sperm capacitance by inhibiting calcium uptake and nitrogen oxide (NO) production., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Includes the study of a disease-related upstream ORF in this gene, and shows that it functions to reduce protein levels by 100%., [RefSeq, PubMed]; Pancreatic Secretory Trypsin Inhibitor (SPINK1) Gene Mutation in Patients with Acute Alcohol Pancreatitis (AAP) Compared to Healthy Controls and Heavy Alcohol Users without Pancreatitis. Publication Status: Online-Only, [RefSeq, PubMed]; SPINK1 contributes to proliferation and clonal formation of HT29 cells through Beclin1 associated enhanced autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; Serine protease inhibitor which exhibits anti-trypsin activity (PubMed:7142173). In the pancreas, protects against trypsin-catalyzed premature activation of zymogens (By similarity)., [UniProtKB, UniProtKB, PubMed]; Serine protease inhibitor which exhibits anti-trypsin activity. In the pancreas, protects against trypsin-catalyzed premature activation of zymogens., [UniProtKB, UniProtKB]; The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]., [RefSeq]; [Influence of environmental factors and polymorphic loci rs6580502 of the SPINK1 gene, rs10273639 of the PRSS1 gene, rs213950 of the CFTR gene on the risk of developing acute alcoholic-alimentary pancreatitis]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 11, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "P00995-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCM1-1", "uniprot_id": [ { "id": "DC11L_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCM1", "type": "external" } ], "mass": 95061.0, "length": 818, "protein_name": "Dynein regulatory complex subunit like-11", "gene_name": "DRC11L", "organism": "Human", "refseq_name": "dynein regulatory complex subunit like-11", "refseq_ac": [ { "id": "NP_001291348", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291348", "type": "external" } ], "gene_names_uniprotkb": "DRC11L; IQCA1L; IQCA1P1", "gene_names_refseq": "DRC11L; IQCA1L; IQCA1P1", "protein_names_uniprotkb": "Dynein regulatory complex subunit like-11; IQ and AAA domain-containing protein 1 pseudogene 1; IQ and AAA domain-containing protein 1-like", "protein_names_refseq": "IQ motif containing with AAA domain 1 like; IQ motif containing with AAA domain 1-like protein; dynein regulatory complex subunit like-11; putative IQ and AAA domain-containing protein 1 pseudogene 1; putative IQ and AAA domain-containing protein 1-like; putative IQ motif containing with AAA domain 1 pseudogene 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:392843)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;29557506;31492838;33091337;33592498;35580925", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "A0A087WYV2", "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_biological_process": "GO:0051013 microtubule severing", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A6NCM1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A9QM74-1", "uniprot_id": [ { "id": "IMA8_HUMAN", "url": "https://www.uniprot.org/uniprot/A9QM74", "type": "external" } ], "mass": 56938.0, "length": 516, "protein_name": "Importin subunit alpha-8", "gene_name": "KPNA7", "organism": "Human", "refseq_name": "importin subunit alpha-8", "refseq_ac": [ { "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187", "type": "external" } ], "gene_names_uniprotkb": "KPNA7", "gene_names_refseq": "IPOA8; KPNA7; OZEMA17", "protein_names_uniprotkb": "Importin subunit alpha-8; Karyopherin subunit alpha-7", "protein_names_refseq": "importin subunit alpha-8; karyopherin alpha 7", "tax_id": 9606, "disease": "oocyte/zygote/embryo maturation arrest 17 (MONDO:MONDO:0957220)", "pathway": " (hsa:402569); (R-HSA-1169408); (R-HSA-168276); (R-HSA-9918432)", "pathway_count": 4, "publication_count": 58, "publication_id_list": "10205180;10228156;10846107;11095724;11112487;11157743;11788588;12525615;12582176;15131269;15485925;15702989;16009940;16112642;16122702;16139798;16352599;16407192;16428300;16699525;16715065;16775314;16815975;16872604;16914094;17289916;17376915;18287095;18305167;18583345;19073728;19125153;19270716;20133869;20219937;20308324;20385878;20701745;22121020;24045845;24275456;26208004;27383988;27664836;28228593;29580221;30355688;31642884;32179771;33141586;35215835;35580925;36647821;38793607;7559393;8313914;9525617;9651582", "class_list": "", "function": "An epilepsy-associated mutation in the nuclear import receptor KPNA7 reduces nuclear localization signal binding. Publication Status: Online-Only, [RefSeq, PubMed]; Functions in nuclear protein import., [UniProtKB, PubMed]; KPNA7 binding and nuclear transfer was validated for two proteins, MVP and ZNF414. MVP and ZNF414 have a key role in the regulation of pancreatic cancer cell growth., [RefSeq, PubMed]; KPNA7 has a critical role in the regulation of mitosis through the proper organization of the mitotic spindle and acts in the maintenance of the nuclear envelope structure and nuclear morphology. Erratum:[BMC Cancer. 2019 Jan 14;19(1):57. doi: 10.1186/s12885-018-5234-4. PMID: 30642282] Publication Status: Online-Only, [RefSeq, PubMed]; KPNA7 silencing inhibits the malignant properties of pancreatic cancer cells in vitro and thereby provide the first evidence on the functional role for KPNA7 in human cancer., [RefSeq, PubMed]; KPNA7, an isoform with expression mostly limited to early development, can bind Importin-beta (Imp-beta) in the absence of NLS cargo., [RefSeq, PubMed]; Our data show that compound heterozygous mutations in KPNA7 are associated with a human neurodevelopmental disease, and provide the first example of a human disease associated with mutation of a nuclear transport receptor., [RefSeq, PubMed]; The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [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": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D277", "ec_number_list": [], "go_molecular_function": "GO:0008139 nuclear localization sequence binding;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005819 spindle;GO:0005829 cytosol;GO:0042564 NLS-dependent protein nuclear import complex", "go_biological_process": "GO:0006607 NLS-bearing protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "A9QM74-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62312-1", "uniprot_id": [ { "id": "LSM6_HUMAN", "url": "https://www.uniprot.org/uniprot/P62312", "type": "external" } ], "mass": 9128.0, "length": 80, "protein_name": "U6 snRNA-associated Sm-like protein LSm6", "gene_name": "LSM6", "organism": "Human", "refseq_name": "U6 snRNA-associated Sm-like protein LSm6", "refseq_ac": [ { "id": "NP_009011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009011", "type": "external" } ], "gene_names_uniprotkb": "LSM6", "gene_names_refseq": "LSM6; YDR378C", "protein_names_uniprotkb": "U6 snRNA-associated Sm-like protein LSm6", "protein_names_refseq": "LSM6 U6 small nuclear RNA and mRNA degradation associated; LSM6 homolog, U6 small nuclear RNA associated; Sm protein F; U6 snRNA-associated Sm-like protein LSm6", "tax_id": 9606, "disease": "", "pathway": " (hsa:11157); (R-HSA-430039); (R-HSA-72163)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10369684;10523320;10882114;11014198;11101529;11233976;11283721;11991638;12176931;12218187;12411573;12414731;12417715;12477934;12486012;12515382;12923261;14625303;14713954;14749774;15085179;15231747;15475613;15711010;16051491;16141059;16246173;16299471;16314458;16809785;17095540;17245413;17332742;17606899;18039849;18322460;18593880;19061636;19103666;19165350;19239894;19279404;19536130;19608861;20423332;20980672;21536652;2176635;22110043;22365833;22959432;22961380;23222130;23236153;23345524;24196718;24304693;24448447;24714562;24737827;24914973;25555158;2558966;25880248;26385511;26420826;26728094;26912367;26969736;26992070;27377154;27459055;27683217;27862975;28062851;28076346;28502770;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29557506;2963332;30192525;30315277;30705154;30728453;30765414;30975767;31409651;31844290;31848261;32157095;32179686;32329775;32357974;32494006;32983136;33243851;33446560;33717175;33912179;34019948;34301950;34561969;34822310;35051231;35154160;35385551;35580925;36284347;36581221;3757028;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320). Component of LSm protein complexes, which are involved in RNA processing and may function in a chaperone-like manner, facilitating the efficient association of RNA processing factors with their substrates. Component of the cytoplasmic LSM1-LSM7 complex, which is thought to be involved in mRNA degradation by activating the decapping step in the 5'-to-3' mRNA decay pathway (Probable)., [UniProtKB, PubMed, PubMed, PubMed]; Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[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": 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": "Q4W5J5;Q9Y4Y8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0008033 tRNA processing;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0008380 RNA splicing;GO:0006402 mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P62312-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ88-1", "uniprot_id": [ { "id": "TIGAR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ88", "type": "external" } ], "mass": 30063.0, "length": 270, "protein_name": "Fructose-2,6-bisphosphatase TIGAR", "gene_name": "TIGAR", "organism": "Human", "refseq_name": "fructose-2,6-bisphosphatase TIGAR", "refseq_ac": [ { "id": "NP_065108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065108", "type": "external" } ], "gene_names_uniprotkb": "TIGAR; C12orf5", "gene_names_refseq": "C12orf5; FR2BP; TIGAR", "protein_names_uniprotkb": "Fructose-2,6-bisphosphatase TIGAR; 3.1.3.46; TP53-induced glycolysis and apoptosis regulator; TP53-induced glycolysis regulatory phosphatase", "protein_names_refseq": "TP53-induced glycolysis and apoptosis regulator; fructose-2,6-bisphosphatase TIGAR; fructose-2,6-bisphosphate 2-phosphatase; probable fructose-2,6-bisphosphatase TIGAR; transactivated by NS3TP2 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:57103); (R-HSA-5628897)", "pathway_count": 2, "publication_count": 115, "publication_id_list": "10329961;10716435;10745013;10980602;11029283;11034341;11062477;11237011;11340051;11486029;11545734;11959846;12161445;12203114;12438239;12453409;12714747;12869586;12906785;13298683;13538944;14651849;15105503;15223;15589136;16140933;16413492;16636147;16728594;16760263;16839880;17298220;17486094;17525332;17540029;18077418;18198340;18344994;18692468;19015259;19113821;19439913;19487573;19608861;19713938;19822145;20068231;20080666;20182617;20351271;20378837;21750704;21820150;21958598;22363791;22887998;23185017;23301498;23726973;23775793;23817040;24066844;24366874;24383451;24714562;24718924;25418920;25579166;25928429;26652033;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632046;30315122;30833945;31154438;31844290;32157095;32265295;32350084;32502341;32938616;32983136;33298915;33592498;33691108;33912179;33968037;33981976;34019948;34229054;34369624;34561969;35163828;35271998;35580925;36215666;36284347;36555672;37140263;40914422;5666113;7979252;7989588;8119488;9926927", "class_list": "", "function": "Fructose-bisphosphatase hydrolyzing fructose-2,6-bisphosphate as well as fructose-1,6-bisphosphate (PubMed:19015259). Acts as a negative regulator of glycolysis by lowering intracellular levels of fructose-2,6-bisphosphate in a p53/TP53-dependent manner, resulting in the pentose phosphate pathway (PPP) activation and NADPH production (PubMed:16839880, PubMed:22887998). Contributes to the generation of reduced glutathione to cause a decrease in intracellular reactive oxygen species (ROS) content, correlating with its ability to protect cells from oxidative or metabolic stress-induced cell death (PubMed:16839880, PubMed:19713938, PubMed:22887998, PubMed:23726973, PubMed:23817040). Plays a role in promoting protection against cell death during hypoxia by decreasing mitochondria ROS levels in a HK2-dependent manner through a mechanism that is independent of its fructose-bisphosphatase activity (PubMed:23185017). In response to cardiac damage stress, mediates p53-induced inhibition of myocyte mitophagy through ROS levels reduction and the subsequent inactivation of BNIP3. Reduced mitophagy results in an enhanced apoptotic myocyte cell death, and exacerbates cardiac damage (By similarity). Plays a role in adult intestinal regeneration; contributes to the growth, proliferation and survival of intestinal crypts following tissue ablation (PubMed:23726973). Plays a neuroprotective role against ischemic brain damage by enhancing PPP flux and preserving mitochondria functions (By similarity). Protects glioma cells from hypoxia- and ROS-induced cell death by inhibiting glycolysis and activating mitochondrial energy metabolism and oxygen consumption in a TKTL1-dependent and p53/TP53-independent manner (PubMed:22887998). Plays a role in cancer cell survival by promoting DNA repair through activating PPP flux in a CDK5-ATM-dependent signaling pathway during hypoxia and/or genome stress-induced DNA damage responses (PubMed:25928429). Involved in intestinal tumor progression (PubMed:23726973)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Inhibition of TIGAR Increases Exogenous p53 and Cisplatin Combination Sensitivity in Lung Cancer Cells by Regulating Glycolytic Flux. Publication Status: Online-Only, [RefSeq, PubMed]; TCF19 and p53 regulate transcription of TIGAR and SCO2 in HCC for mitochondrial energy metabolism and stress adaptation., [RefSeq, PubMed]; TIGAR Protects Against Adenine-Induced Ferroptosis in Human Proximal Tubular Epithelial Cells by Activating the mTOR/S6KP70 Axis., [RefSeq, PubMed]; TIGAR drives colorectal cancer ferroptosis resistance through ROS/AMPK/SCD1 pathway., [RefSeq, PubMed]; The Expression of TP53-Induced Glycolysis and Apoptosis Regulator (TIGAR) Can Be Controlled by the Antioxidant Orchestrator NRF2 in Human Carcinoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 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": "B2R840", "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_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0005739 mitochondrion", "go_biological_process": "GO:0043456 regulation of pentose-phosphate shunt;GO:0002931 response to ischemia;GO:0006915 apoptotic process;GO:0071456 cellular response to hypoxia;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q9NQ88-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N0Z6-1", "uniprot_id": [ { "id": "TTC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N0Z6", "type": "external" } ], "mass": 48928.0, "length": 440, "protein_name": "Tetratricopeptide repeat protein 5", "gene_name": "TTC5", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 5", "refseq_ac": [ { "id": "NP_612385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612385", "type": "external" } ], "gene_names_uniprotkb": "TTC5", "gene_names_refseq": "NEDCAFD; Strap; TTC5", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 5; Protein Strap; Stress-responsive activator of p300; TPR repeat protein 5", "protein_names_refseq": "TPR repeat protein 5; protein Strap; stress-responsive activator of p300; tetratricopeptide repeat protein 5", "tax_id": 9606, "disease": "neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism (MONDO:MONDO:0030999)", "pathway": " (hsa:91875); (R-HSA-6804760)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10518217;11237011;11511361;15448695;15525938;16415881;17108971;17170761;17707234;18451878;18833288;19011621;20118233;20870725;21147850;21625555;22362889;23301498;23559008;24091941;25576301;25880248;26154972;26992070;27600516;27846572;28228285;28832583;28834231;29242379;29557506;29632046;30315122;30379171;30429286;31727855;31844290;31848261;32157095;32161166;32387766;32439809;32502341;33717175;33912179;33968037;33981976;34947995;35051231;35154160;35580925;35670379;37938771;40596516;40914422", "class_list": "", "function": "Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability., [RefSeq, PubMed]; Cofactor involved in the regulation of various cellular mechanisms such as actin regulation, autophagy, chromatin regulation and DNA repair (PubMed:18451878, PubMed:31727855). In non-stress conditions, interacts with cofactor JMY in the cytoplasm which prevents JMY's actin nucleation activity and ability to activate the Arp2/3 complex. Acts as a negative regulator of nutrient stress-induced autophagy by preventing JMY's interaction with MAP1LC3B, thereby preventing autophagosome formation (By similarity). Involves in tubulin autoregulation by promoting its degradation in response to excess soluble tubulin (PubMed:31727855). To do so, associates with the active ribosome near the ribosome exit tunnel and with nascent tubulin polypeptides early during their translation, triggering tubulin mRNA-targeted degradation (PubMed:31727855). Following DNA damage, phosphorylated by DNA damage responsive protein kinases ATM and CHEK2, leading to its nuclear accumulation and stability. Nuclear TTC5/STRAP promotes the assembly of a stress-responsive p53/TP53 coactivator complex, which includes the coactivators JMY and p300, thereby increasing p53/TP53-dependent transcription and apoptosis. Also recruits arginine methyltransferase PRMT5 to p53/TP53 when DNA is damaged, allowing PRMT5 to methylate p53/TP53. In DNA stress conditions, also prevents p53/TP53 degradation by E3 ubiquitin ligase MDM2 (By similarity). Upon heat-shock stress, forms a chromatin-associated complex with heat-shock factor 1 HSF1 and p300/EP300 to stimulate heat-shock-responsive transcription, thereby increasing cell survival (PubMed:18451878). Mitochondrial TTC5/STRAP interacts with ATP synthase subunit beta ATP5F1B which decreased ATP synthase activity and lowers mitochondrial ATP production, thereby regulating cellular respiration and mitochondrial-dependent apoptosis. Mitochondrial TTC5/STRAP also regulates p53/TP53-mediated apoptosis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Evaluation of the Role of p53 Tumour Suppressor Posttranslational Modifications and TTC5 Cofactor in Lung Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Human TTC5, a novel tetratricopeptide repeat domain containing gene, activates p53 and inhibits AP-1 pathway., [RefSeq, PubMed]; TTC5 and EP300 cooperate to prevent excessive accumulation of MYC in AML cells and their sensitization to cell death. Publication Status: Online-Only, [RefSeq, PubMed]; TTC5 is a novel cofactor regulating GR function in a stress-dependent manner., [RefSeq, PubMed]; TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition. Erratum:[Am J Med Genet A. 2023 Mar;191(3):910. doi: 10.1002/ajmg.a.63091. PMID: 36574750], [RefSeq, PubMed]; This study identified tetratricopeptide protein 5 (TTC5) as a tubulin-specific ribosome-associating factor that triggers cotranslational degradation of tubulin mRNAs in response to excess soluble tubulin., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MQ18;Q96HF9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0043022 ribosome binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0009267 cellular response to starvation;GO:0061014 positive regulation of mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q8N0Z6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YS6-1", "uniprot_id": [ { "id": "RAB43_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YS6", "type": "external" } ], "mass": 23339.0, "length": 212, "protein_name": "Ras-related protein Rab-43", "gene_name": "RAB43", "organism": "Human", "refseq_name": "ras-related protein Rab-43 isoform a", "refseq_ac": [ { "id": "NP_001191812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191812", "type": "external" } ], "gene_names_uniprotkb": "RAB43; RAB41", "gene_names_refseq": "RAB11B; RAB41; RAB43", "protein_names_uniprotkb": "Ras-related protein Rab-43; 3.6.5.2; Ras-related protein Rab-41", "protein_names_refseq": "ras-related protein Rab-41; ras-related protein Rab-43 isoform a; ras-related protein Rab-43", "tax_id": 9606, "disease": "", "pathway": " (hsa:339122); (R-HSA-6811440); (R-HSA-8873719)", "pathway_count": 3, "publication_count": 121, "publication_id_list": "10.1101/2023.09.13.557529;10209123;10445031;10559959;10637310;10865125;10990452;11141079;11237011;11303027;11346801;11359012;11389151;11447212;11675392;11689439;11827983;11839770;12070132;12377769;12620188;12620189;14580338;14718928;15018353;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15654769;15758030;15870108;15878329;16042553;16086013;16129887;16401880;1648736;16571679;16885419;16912714;16936697;17114793;17411337;17451557;17488291;17562788;17684057;17698061;18195106;18243103;18256213;18367545;18532927;18664496;18669648;18946081;19164740;19490898;19603039;19620288;20068231;20685960;21183348;21255211;21421921;21436057;21689688;21807881;22335553;22354037;22581368;22694141;22717455;23091056;23437303;24023390;24794632;25341920;25343031;26969162;28467828;29069590;29125462;29233918;29242379;29557506;31226964;32102752;32350084;32983136;33592498;33912179;33968037;35051231;35251023;35580925;35597125;36215666;7909812;7957092;7991565;8164745;8221884;8349690;8375503;8440258;8513495;8620540;8631982;8636227;8662963;8670882;8836150;9050864;9177194;9230071;9590177", "class_list": "", "function": "A germline mutation of Rab43 gene is identified to be associated with the onset of a familial liver-colon cancer syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of TNFRSF19 and RAB43 by a novel miRNA, miR-HCC3, promotes proliferation and epithelial-mesenchymal transition in hepatocellular carcinoma cells., [RefSeq, PubMed]; MiR-4742-5p promotes invasiveness of gastric cancer via targeting Rab43: An in vitro study., [RefSeq, PubMed]; Rab18 and Rab43 have key roles in ER-Golgi trafficking., [RefSeq, PubMed]; Rab43 directly interacts with GPCRs and controls the forward ER-to-Golgi traffic of nascent GPCRs., [RefSeq, PubMed]; Rab43 is the target of RN-tre and is required for Shiga toxin uptake., [RefSeq, PubMed]; Results indicate that Rab1 and Rab43 are key Rabs required for the biogenesis and maintenance of a functional Golgi structure, and suggest that other Rabs acting at the Golgi complex are likely to be functionally redundant., [RefSeq, PubMed]; The results of PCR amplification indicated that human RAB41 is widely expressed in brain, testis, lung, heart, ovary, colon, kidney, uterus and spleen but not in liver., [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 set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:16086013, PubMed:17562788, PubMed:17684057, PubMed:18664496, PubMed:21255211, PubMed:29069590). Involved in retrograde transport from the endocytic pathway to the Golgi apparatus (PubMed:17684057). Required for the structural integrity of the Golgi complex (PubMed:17684057, PubMed:18664496). Also controls the anterograde ER-to-Golgi transport of nascent G protein-coupled receptors (including ADRA2A, ADRA2B, ADRA2C, ADRA1B, ADRB2 and AGTR1) and regulates the ER sorting of GPCR members by virtue of its ability to interact directly (PubMed:18664496, PubMed:29069590). Involved in the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network (PubMed:17562788). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Vesicle-associated RhoB is a regulator of the Rab11-mediated recycling of LFA-1 to the cell surface, an event that is necessary for T lymphocyte motility. 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": 4, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 9486, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K4P9;E9PBQ0", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0032588 trans-Golgi network membrane;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0090382 phagosome maturation;GO:0000045 autophagosome assembly;GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "Q86YS6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05113-1", "uniprot_id": [ { "id": "IL5_HUMAN", "url": "https://www.uniprot.org/uniprot/P05113", "type": "external" } ], "mass": 15238.0, "length": 134, "protein_name": "Interleukin-5", "gene_name": "IL5", "organism": "Human", "refseq_name": "interleukin-5 precursor", "refseq_ac": [ { "id": "NP_000870", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000870", "type": "external" } ], "gene_names_uniprotkb": "IL5", "gene_names_refseq": "EDF; IL-5; IL5; TRF", "protein_names_uniprotkb": "Interleukin-5; B-cell differentiation factor I; Eosinophil differentiation factor; IL-5; T-cell replacing factor; TRF", "protein_names_refseq": "B-cell differentiation factor I; T-cell replacing factor; colony-stimulating factor, eosinophil; eosinophil differentiation factor; interleukin-5 precursor", "tax_id": 9606, "disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); chronic lymphocytic leukemia (Disease Ontology:DOID:1040); stomach cancer (Disease Ontology:DOID:10534); IgA vasculitis (Disease Ontology:DOID:11123); prostatic hypertrophy (Disease Ontology:DOID:11132); nephrotic syndrome (Disease Ontology:DOID:1184); urinary schistosomiasis (Disease Ontology:DOID:1394); peptic esophagitis (Disease Ontology:DOID:13976); major depressive disorder (Disease Ontology:DOID:1470); asthma (Disease Ontology:DOID:2841); food allergy (Disease Ontology:DOID:3044); Churg-Strauss syndrome (Disease Ontology:DOID:3049); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); middle cerebral artery infarction (Disease Ontology:DOID:3525); eosinophilic gastroenteritis (Disease Ontology:DOID:4031); allergic rhinitis (Disease Ontology:DOID:4481); esophageal cancer (Disease Ontology:DOID:5041); rheumatoid arthritis (Disease Ontology:DOID:7148); osteoarthritis (Disease Ontology:DOID:8398); systemic lupus erythematosus (Disease Ontology:DOID:9074); status asthmaticus (Disease Ontology:DOID:9362); pulmonary eosinophilia (Disease Ontology:DOID:9498)", "pathway": " (hsa:3567); (R-HSA-512988); (R-HSA-5673001); (R-HSA-912526); (R-HSA-9976102)", "pathway_count": 5, "publication_count": 111, "publication_id_list": "10207047;10455108;10477686;10477722;10508167;10570274;10869344;10949031;10982827;11027663;11090077;11136978;11237011;11313946;11328862;11340297;11546808;11702783;12032311;12094235;12121613;1396555;1400495;14506247;1465135;14707138;1495999;15356145;1545823;15546878;16627759;16684964;1702217;1716764;17998941;1833064;1833065;18692472;18775330;1898771;19279408;19920141;2037074;20478380;2065657;21102635;21372320;21779497;21779505;21993244;22153509;22528658;22569528;22589270;22750304;23103841;23303910;23443682;23575685;2361960;24897931;24937142;25219551;2555171;25781681;26085527;2653458;2681215;2823259;2824500;28778966;29242379;3024129;31135801;32211550;3498940;37908348;38497343;38612591;6148751;7513165;7613138;7651724;7809086;7935463;7972015;8007942;8052307;8084588;8294403;8394845;8483502;8493579;8647804;8665852;8710374;8939933;8947042;9010276;9030599;9099679;9108392;9111318;9162089;9422786;9500522;9604935;9685210;9766809;9885561;9927426", "class_list": "", "function": "A Potential Role of Interleukin-5 in the Pathogenesis and Progression of Amyotrophic Lateral Sclerosis: A New Molecular Perspective. Publication Status: Online-Only, [RefSeq, PubMed]; A fine mapping of single nucleotide variants and haplotype analysis of IL13 gene in patients with Leishmania guyanensis-cutaneous leishmaniasis and plasma cytokines IL-4, IL-5, and IL-13. Publication Status: Online-Only, [RefSeq, PubMed]; Homodimeric cytokine expressed predominantly by T-lymphocytes and NK cells that plays an important role in the survival, differentiation, and chemotaxis of eosinophils. Acts also on activated and resting B-cells to induce immunoglobulin production, growth, and differentiation. Mechanistically, exerts its biological effects through a receptor composed of IL5RA subunit and the cytokine receptor common subunit beta/CSF2RB. Binding to the receptor leads to activation of various kinases including LYN, SYK and JAK2 and thereby propagates signals through the RAS-MAPK and JAK-STAT5 pathways respectively., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; The association of 25(OH)D, interleukin-4, interleukin-5, and interleukin-13 levels with the burden of soil-transmitted helminth infection in stunted children aged 24-59 months., [RefSeq, PubMed]; This gene encodes a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. The encoded cytokine plays a major role in the regulation of eosinophil formation, maturation, recruitment and survival. The increased production of this cytokine may be related to pathogenesis of eosinophil-dependent inflammatory diseases. This cytokine functions by binding to its receptor, which is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene is located on chromosome 5 within a cytokine gene cluster which includes interleukin 4 (IL4), interleukin 13 (IL13), and CSF2 . This gene, IL4, and IL13 may be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31. [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": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 23, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q13840", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0008083 growth factor activity;GO:0005137 interleukin-5 receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0045645 positive regulation of eosinophil differentiation;GO:0038043 interleukin-5-mediated signaling pathway;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "P05113-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43248-1", "uniprot_id": [ { "id": "HXC11_HUMAN", "url": "https://www.uniprot.org/uniprot/O43248", "type": "external" } ], "mass": 33748.0, "length": 304, "protein_name": "Homeobox protein Hox-C11", "gene_name": "HOXC11", "organism": "Human", "refseq_name": "homeobox protein Hox-C11", "refseq_ac": [ { "id": "NP_055027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055027", "type": "external" } ], "gene_names_uniprotkb": "HOXC11; HOX3H", "gene_names_refseq": "HOX3H; HOXC11", "protein_names_uniprotkb": "Homeobox protein Hox-C11; Homeobox protein Hox-3H", "protein_names_refseq": "homeo box C11; homeobox protein Hox-3H; homeobox protein Hox-C11", "tax_id": 9606, "disease": "", "pathway": " (hsa:3227); (R-HSA-9830674)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "11237011;11857506;17488478;20068231;25218447;25772364;32157095;32161166;34171305;34415792;35051231;36823149;9582375", "class_list": "", "function": "HOXC11 Expression Is Associated with the Progression of Colon Adenocarcinoma and Is a Prognostic Biomarker., [RefSeq, PubMed]; HOXC11 drives lung adenocarcinoma progression through transcriptional regulation of SPHK1. Publication Status: Online-Only, [RefSeq, PubMed]; HOXC11 increases transcription of S100beta gene in BrdU-induced in vitro differentiation of GOTO neuroblastoma cells into Schwann cells., [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. Binds to a promoter element of the lactase-phlorizin hydrolase gene., [UniProtKB]; This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K7D1;Q96DH2", "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:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007492 endoderm development;GO:0060272 embryonic skeletal joint morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "O43248-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14197-1", "uniprot_id": [ { "id": "ICT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14197", "type": "external" } ], "mass": 23630.0, "length": 206, "protein_name": "Large ribosomal subunit protein mL62", "gene_name": "MRPL58", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL62 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001290194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290194", "type": "external" } ], "gene_names_uniprotkb": "MRPL58; DS1; ICT1", "gene_names_refseq": "DS-1; DS1; ICT1; MRP-L58; MRPL58; mL62", "protein_names_uniprotkb": "Large ribosomal subunit protein mL62; 3.1.1.29; 39S ribosomal protein L58, mitochondrial; DS-1; Digestion substraction 1; Immature colon carcinoma transcript 1 protein; MRP-L58; Peptidyl-tRNA hydrolase ICT1, mitochondrial", "protein_names_refseq": "39S ribosomal protein L58, mitochondrial; digestion substraction 1; immature colon carcinoma transcript 1 protein; large ribosomal subunit protein mL62 isoform 2 precursor; mitochondrial large ribosomal subunit protein ICT1; mitochondrial large ribosomal subunit protein mL62; peptidyl-tRNA hydrolase ICT1, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:3396); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 36, "publication_id_list": "11237011;15358359;17803939;17924679;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;23908630;24352605;25233460;25278503;25838379;26992070;27023846;27029019;28510447;28892042;29242379;29328466;29493099;29951881;31844290;33243891;33585660;33878294;35177605;35260756;36302763;36596788;37141370;8575443", "class_list": "", "function": "Essential peptidyl-tRNA hydrolase component of the mitochondrial large ribosomal subunit (PubMed:20186120, PubMed:33878294). Acts as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion, possibly in case of abortive elongation (PubMed:33878294). Involved in the hydrolysis of peptidyl-tRNAs that have been prematurely terminated and thus in the recycling of stalled mitochondrial ribosomes (PubMed:20186120, PubMed:33878294)., [UniProtKB, PubMed, PubMed]; High ICT1 expression is associated with leukemia., [RefSeq, PubMed]; ICT1 Promotes Osteosarcoma Cell Proliferation and Inhibits Apoptosis via STAT3/BCL-2 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; ICT1 may be essential for hydrolysis of prematurely terminated peptidyl-tRNA moieties in stalled mitoribosomes., [RefSeq, PubMed]; MiR-1301-3p inhibits cell proliferation via inducing cell cycle arrest and apoptosis through targeting ICT1, and might be a therapeutic target for BC., [RefSeq, PubMed]; The protein encoded by this gene is a peptidyl-tRNA hydrolase and a vital component of the large mitochondrial ribosome. The encoded protein serves as a ribosome release factor for this ribosome, which translates mitochondrial genes. This protein may be responsible for degrading prematurely-terminated polypeptides and for reusing stalled ribosomes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "B2RAD1;Q53HM7;Q53Y11", "ec_number_list": [ { "id": "7.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.9", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "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:0004045 peptidyl-tRNA hydrolase activity;GO:0016150 translation release factor activity, codon nonspecific;GO:0003747 translation release factor activity", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0005840 ribosome", "go_biological_process": "GO:0070126 mitochondrial translational termination;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q14197-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62310-1", "uniprot_id": [ { "id": "LSM3_HUMAN", "url": "https://www.uniprot.org/uniprot/P62310", "type": "external" } ], "mass": 11845.0, "length": 102, "protein_name": "U6 snRNA-associated Sm-like protein LSm3", "gene_name": "LSM3", "organism": "Human", "refseq_name": "U6 snRNA-associated Sm-like protein LSm3", "refseq_ac": [ { "id": "NP_055278", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055278", "type": "external" } ], "gene_names_uniprotkb": "LSM3; MDS017", "gene_names_refseq": "LSM3; SMX4; USS2; YLR438C", "protein_names_uniprotkb": "U6 snRNA-associated Sm-like protein LSm3", "protein_names_refseq": "LSM3 U6 small nuclear RNA and mRNA degradation associated; LSM3 homolog, U6 small nuclear RNA associated; U6 snRNA-associated Sm-like protein LSm3", "tax_id": 9606, "disease": "", "pathway": " (hsa:27258); (R-HSA-430039); (R-HSA-72163)", "pathway_count": 3, "publication_count": 134, "publication_id_list": "10369684;10523320;10882114;11014198;11101529;11233976;11283721;11991638;12176931;12218187;12411573;12414731;12417715;12477934;12486012;12515382;12923261;14625303;14713954;14749774;15085179;15231747;15475613;15711010;16051491;16141059;16246173;16299471;16314458;16809785;17095540;17245413;17332742;17606899;18039849;18322460;18593880;19061636;19103666;19165350;19239894;19279404;19536130;19664995;20423332;20980672;21536652;2176635;22110043;22365833;22959432;22961380;23222130;23236153;23345524;24196718;24304693;24397554;24448447;24737827;24914973;25418920;25555158;2558966;26154972;26385511;26420826;26912367;26929215;26969736;26992070;27377154;27459055;27683217;28062851;28076346;28218747;28228285;28502770;28514659;28781166;28832583;28904123;29242379;29301961;29360106;29361316;29437277;29493099;29632046;2963332;30192525;30315277;30429286;30705154;30728453;30765414;30975767;31217245;31409651;31844290;31848261;32157095;32179686;32265295;32329775;32350084;32494006;32502341;32897882;32938616;33243851;33446560;33912179;33981976;34019948;34087483;34301950;34822310;35385551;35580925;36284347;3757028;39894887;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320)., [UniProtKB, PubMed, PubMed]; Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[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": 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": "Q6IAH0;Q9Y4Z1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0030629 U6 snRNA 3'-end binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0006397 mRNA processing;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "P62310-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRR8-1", "uniprot_id": [ { "id": "GPTC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRR8", "type": "external" } ], "mass": 103345.0, "length": 931, "protein_name": "G patch domain-containing protein 1", "gene_name": "GPATCH1", "organism": "Human", "refseq_name": "G patch domain-containing protein 1", "refseq_ac": [ { "id": "NP_060495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060495", "type": "external" } ], "gene_names_uniprotkb": "GPATCH1; ECGP; GPATC1", "gene_names_refseq": "ECGP; GPATC1; GPATCH1", "protein_names_uniprotkb": "G patch domain-containing protein 1; Evolutionarily conserved G-patch domain-containing protein", "protein_names_refseq": "G patch domain-containing protein 1; evolutionarily conserved G patch domain containing; evolutionarily conserved G-patch domain-containing protein", "tax_id": 9606, "disease": "progressive myoclonus epilepsy 3 (Disease Ontology:DOID:0111446)", "pathway": " (hsa:55094); (R-HSA-72163)", "pathway_count": 2, "publication_count": 109, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17081983;17095540;17332742;17606899;18322460;18452278;18593880;19103666;19165350;19536130;20068231;20423332;20980672;21406692;21536652;2176635;22110043;22365833;22959432;22961380;22963587;23186163;23222130;23236153;23301498;23345524;24196718;24304693;24448447;24737827;24914973;25555158;2558966;26385511;26420826;26969736;27377154;27459055;27683217;28062851;28076346;28502770;28781166;28832583;28904123;29301961;29351928;29360106;29361316;29493099;29557506;2963332;30315277;30379171;30429286;30705154;30728453;30765414;30975767;31217245;31409651;31844290;32157095;32179686;32329775;32357974;32387766;32494006;32938616;32983136;33243851;33446560;33592498;33912179;33968037;34185709;34301950;34822310;35051231;35385551;36241641;36284347;37217939;3757028;39531497;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "In vitro, OmpA+ Escherichia coli infection selectively upregulates Ecgp96 and TLR2 in human brain microvascular endothelial cells (HBMEC), whereas OmpA- E. coli upregulates TLR4 in these 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8IZV6;Q8N3B7;Q9NW94", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:0006397 mRNA processing", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q9BRR8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6V9-1", "uniprot_id": [ { "id": "TEX9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6V9", "type": "external" } ], "mass": 44826.0, "length": 391, "protein_name": "Testis-expressed protein 9", "gene_name": "TEX9", "organism": "Human", "refseq_name": "testis-expressed protein 9 isoform 2", "refseq_ac": [ { "id": "NP_001273378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273378", "type": "external" } ], "gene_names_uniprotkb": "TEX9", "gene_names_refseq": "TEX9", "protein_names_uniprotkb": "Testis-expressed protein 9", "protein_names_refseq": "testis-expressed protein 9 isoform 2; testis-expressed protein 9; testis-expressed sequence 9 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:374618)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;23481700;26638075;26992070;27846572;27920218;28228285;28446606;28832583;29242379;29393594;30315122;31481019;31844290;32157095;32357974;32938616;33298915;33691108;33717175;33912179;33968037;34932366;35051231;36010968", "class_list": "", "function": "Testis-expressed protein 9 (TEX9) expression is positively associated with eukaryotic translation initiation factor 3 subunit b (eIF3b) expression in esophageal squamous cell carcinoma (ESCC). TEX9 expression is positively correlated with tumor-node-metastasis stage in ESCC. eIF3b binding to TEX9 mRNA functionally synergizes to promote the proliferation and migration, and inhibit the apoptosis of ESCC cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B4DH73", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0034451 centriolar satellite", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8N6V9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MU6-1", "uniprot_id": [ { "id": "ZN778_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MU6", "type": "external" } ], "mass": 81964.0, "length": 729, "protein_name": "Zinc finger protein 778", "gene_name": "ZNF778", "organism": "Human", "refseq_name": "zinc finger protein 778 isoform 2", "refseq_ac": [ { "id": "NP_872337", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872337", "type": "external" } ], "gene_names_uniprotkb": "ZNF778", "gene_names_refseq": "ZNF778", "protein_names_uniprotkb": "Zinc finger protein 778", "protein_names_refseq": "zinc finger protein 778 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:197320); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 45, "publication_id_list": "10235266;10330177;11237011;11395415;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;18491316;19920853;2028256;2163759;25274305;25880248;26813693;26992070;28218747;28273063;28514659;28832583;28904123;29242379;29437277;31289231;31427381;32357974;32387766;32938616;32983136;33912179;34404770;35580925;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]; ZNF768 links oncogenic RAS to cellular senescence. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF778 is a candidate gene for autism and variable cognitive impairment in the novel 16q24.3 microdeletion 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q08AG0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q96MU6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q93052-1", "uniprot_id": [ { "id": "LPP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q93052", "type": "external" } ], "mass": 65746.0, "length": 612, "protein_name": "Lipoma-preferred partner", "gene_name": "LPP", "organism": "Human", "refseq_name": "lipoma-preferred partner isoform a", "refseq_ac": [ { "id": "NP_001161143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161143", "type": "external" } ], "gene_names_uniprotkb": "LPP", "gene_names_refseq": "LPP", "protein_names_uniprotkb": "Lipoma-preferred partner; LIM domain-containing preferred translocation partner in lipoma", "protein_names_refseq": "LIM protein; lipoma preferred partner; lipoma-preferred partner isoform a", "tax_id": 9606, "disease": "acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:4026)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "10.1038/emboj.2013.79;10637295;11066083;11237011;11433529;12063392;12441356;12522270;12615977;15144186;15592455;15649318;16094384;17016520;17081983;18669648;19701494;20068231;23301498;23584533;24275569;25114211;26992070;27600516;28657654;28832583;28834231;29237092;29242379;29351928;29393594;29508533;29557506;30059200;30379171;30429286;30484775;30620550;31373491;31492838;31637018;31844290;32157095;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33214551;33592498;33968037;34019948;34087483;34171305;34185709;34381423;34846842;35051231;35132862;35254053;35289036;35513511;35580925;35705054;36010968;36084606;36241641;36284347;36651163;37074911;37340703;37541260;37938771;38665916;38838015;39062631;39531497;39534244;40307207;8812423;9772904", "class_list": "", "function": "Association of LPP and ZMIZ1 Gene Polymorphism with Celiac Disease in Subjects from Punjab, Pakistan. Publication Status: Online-Only, [RefSeq, PubMed]; Case Report: Identification of Potential Prognosis-Related TP53 Mutation and BCL6-LPP Fusion in Primary Pituitary Lymphoma by Next Generation Sequencing: Two Cases. Publication Status: Online-Only, [RefSeq, PubMed]; LPP is a nucleocytoplasmatic shuttle protein linking focal adhesion dynamics to the transcriptional machinery., [RefSeq, PubMed]; LPP polymorphisms are risk factors for allergic rhinitis in the Chinese Han population., [RefSeq, PubMed]; May play a structural role at sites of cell adhesion in maintaining cell shape and motility. In addition to these structural functions, it may also be implicated in signaling events and activation of gene transcription. May be involved in signal transduction from cell adhesion sites to the nucleus allowing successful integration of signals arising from soluble factors and cell-cell adhesion sites. Also suggested to serve as a scaffold protein upon which distinct protein complexes are assembled in the cytoplasm and in the nucleus., [UniProtKB, PubMed]; Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison's disease cohort., [RefSeq, PubMed]; This gene encodes a member of a subfamily of LIM domain proteins that are characterized by an N-terminal proline-rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease-related chromosomal translocations, which result in the expression of chimeric proteins that may promote tumor growth. 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": 1, "reported_o_glycosites_with_glycan": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 12, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "A1L4L6;D3DNV6;Q8NFX5", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0030054 cell junction", "go_biological_process": "GO:0098609 cell-cell adhesion;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q93052-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZ26-1", "uniprot_id": [ { "id": "ZNF34_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZ26", "type": "external" } ], "mass": 64038.0, "length": 560, "protein_name": "Zinc finger protein 34", "gene_name": "ZNF34", "organism": "Human", "refseq_name": "zinc finger protein 34 isoform 2", "refseq_ac": [ { "id": "NP_001273698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273698", "type": "external" } ], "gene_names_uniprotkb": "ZNF34; KOX32", "gene_names_refseq": "KOX32; ZNF34", "protein_names_uniprotkb": "Zinc finger protein 34; Zinc finger protein KOX32", "protein_names_refseq": "zinc finger protein 34 (KOX 32); zinc finger protein 34 isoform 2; zinc finger protein KOX32", "tax_id": 9606, "disease": "", "pathway": " (hsa:80778); (R-HSA-212436)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;20068231;2163759;23186163;25892735;26823146;29393594;29557506;30315122;31154438;31844290;32157095;33912179;38665916;8183939;8769649;9637681;9653119", "class_list": "", "function": "Genes encoding transcription factors expressed in the brain might be an important group of major depressive disorder candidate genes., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "D3DWN1;Q9BSZ0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8IZ26-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13361-1", "uniprot_id": [ { "id": "MFAP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13361", "type": "external" } ], "mass": 19612.0, "length": 173, "protein_name": "Microfibrillar-associated protein 5", "gene_name": "MFAP5", "organism": "Human", "refseq_name": "microfibrillar-associated protein 5 isoform b precursor", "refseq_ac": [ { "id": "NP_001284638", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284638", "type": "external" } ], "gene_names_uniprotkb": "MFAP5; MAGP2", "gene_names_refseq": "AAT9; MAGP-2; MAGP2; MFAP-5; MFAP5; MP25", "protein_names_uniprotkb": "Microfibrillar-associated protein 5; MAGP-2; MFAP-5; MP25; Microfibril-associated glycoprotein 2", "protein_names_refseq": "THE1A-MFAP5; microfibril-associated glycoprotein-2; microfibrillar associated protein 5; microfibrillar-associated protein 5 isoform b precursor", "tax_id": 9606, "disease": "thoracic aortic aneurysm (Disease Ontology:DOID:14004); aortic aneurysm, familial thoracic 9 (MONDO:MONDO:0014514)", "pathway": " (hsa:8076); (R-HSA-1566948); (R-HSA-2129379)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "10025398;10198291;10424889;10544250;10646116;10930463;10936461;11237011;11481325;11970960;12358597;12415008;12429738;1400330;14701737;16906757;16959974;1708799;17324935;18339631;19159218;21646718;22171320;25434006;29393594;29557506;29741879;30459171;31844290;34915136;35051231;35580925;36934797;37074911;37156839;38743016;6123066;7500359;7534784;8557636;8617364;9725916;9792630", "class_list": "", "function": "Loci cg06256735 and cg15815843 in the MFAP5 gene regulatory regions are hypomethylated in varicose veins apparently due to active demethylation., [RefSeq, PubMed]; MAGP2 induces tumor progression by enhancing uPAR-mediated cell proliferation., [RefSeq, PubMed]; May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils (PubMed:8557636)., [UniProtKB, UniProtKB, PubMed]; Microfibril-Associated Glycoprotein-2 Promoted Fracture Healing via Integrin alphavbeta3/PTK2/AKT Signaling., [RefSeq, PubMed]; Targeting MFAP5 in cancer-associated fibroblasts sensitizes pancreatic cancer to PD-L1-based immunochemotherapy via remodeling the matrix., [RefSeq, PubMed]; This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [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": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 36, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B0AZL6;D3DUV1;Q7Z490", "ec_number_list": [], "go_molecular_function": "GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix;GO:0001527 microfibril", "go_biological_process": "GO:0048048 embryonic eye morphogenesis;GO:0060216 definitive hemopoiesis", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q13361-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7K0-1", "uniprot_id": [ { "id": "ZN433_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7K0", "type": "external" } ], "mass": 77243.0, "length": 673, "protein_name": "Zinc finger protein 433", "gene_name": "ZNF433", "organism": "Human", "refseq_name": "zinc finger protein 433 isoform 1", "refseq_ac": [ { "id": "NP_001073880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073880", "type": "external" } ], "gene_names_uniprotkb": "ZNF433", "gene_names_refseq": "ZNF433", "protein_names_uniprotkb": "Zinc finger protein 433", "protein_names_refseq": "zinc finger protein 433 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:163059); (R-HSA-212436)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;20598377;2163759;25892735;28510447;30410026;30429286;31844290;31848261;32938616;33968037;34439859;35051231;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The Identification of Zinc-Finger Protein 433 as a Possible Prognostic Biomarker for Clear-Cell Renal Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF433 has been identified as a candidate gene in a genome-wide association study of German multiple sclerosis patients. 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "Q86VX3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8N7K0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15151-1", "uniprot_id": [ { "id": "PVR_HUMAN", "url": "https://www.uniprot.org/uniprot/P15151", "type": "external" } ], "mass": 45303.0, "length": 417, "protein_name": "Poliovirus receptor", "gene_name": "PVR", "organism": "Human", "refseq_name": "poliovirus receptor isoform delta precursor", "refseq_ac": [ { "id": "NP_001129242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129242", "type": "external" } ], "gene_names_uniprotkb": "PVR; PVS", "gene_names_refseq": "CD155; HVED; NECL5; Necl-5; PVR; PVS; TAGE4", "protein_names_uniprotkb": "Poliovirus receptor; NECL-5; Nectin-like protein 5", "protein_names_refseq": "nectin-like protein 5; poliovirus receptor isoform delta precursor; poliovirus receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:5817); (R-HSA-198933); (R-HSA-420597)", "pathway_count": 3, "publication_count": 133, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10499918;10618374;10746781;11237011;11265639;11437656;11489943;11513152;11544254;11556966;11751937;11807247;11857637;11858820;11861603;11955593;11955595;11955599;11983699;12213321;12483297;12588680;12663789;12759359;1331527;14719373;14970179;15034010;15039383;15136729;15155468;15187158;15194502;15194795;15304001;15471548;15534202;15541655;15580655;15607800;15640804;15741237;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16216929;16335952;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;1851992;18593354;19011627;19149696;19159218;19359216;19592130;20730098;21241660;2170108;21800138;21841309;21877119;22171320;22396535;22421438;23090970;23695528;23929856;24190977;24305946;2538245;25703557;25716998;25813380;26284469;26300885;29393594;30484775;30524438;30833945;31611695;31844290;32350084;32387766;32938616;33392160;33592498;33968037;33981976;34019948;34171305;35051231;36215666;36241641;36284347;37074911;37340703;38289706;38291470;38592213;38604326;38665916;7531291;7542404;8178173;8995416;9285412;9314561;9616127;9700512;9730896", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Pseudorabies virus., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for poliovirus. May play a role in axonal transport of poliovirus, by targeting virion-PVR-containing endocytic vesicles to the microtubular network through interaction with DYNLT1. This interaction would drive the virus-containing vesicle to the axonal retrograde transport., [UniProtKB, PubMed]; (Microbial infection) Is prevented to reach cell surface upon infection by Human cytomegalovirus /HHV-5, presumably to escape immune recognition of infected cell by NK cells., [UniProtKB, PubMed]; Essential role of CD155 glycosylation in functional binding to DNAM-1 on natural killer cells., [RefSeq, PubMed]; Exercise-induced beta2-adrenergic Receptor Activation Enhances the Antileukemic Activity of Expanded gammadelta T-Cells via DNAM-1 Upregulation and PVR/Nectin-2 Recognition., [RefSeq, PubMed]; Mediates NK cell adhesion and triggers NK cell effector functions. Binds two different NK cell receptors: CD96 and CD226. These interactions accumulates at the cell-cell contact site, leading to the formation of a mature immunological synapse between NK cell and target cell. This may trigger adhesion and secretion of lytic granules and IFN-gamma and activate cytotoxicity of activated NK cells. May also promote NK cell-target cell modular exchange, and PVR transfer to the NK cell. This transfer is more important in some tumor cells expressing a lot of PVR, and may trigger fratricide NK cell activation, providing tumors with a mechanism of immunoevasion. Plays a role in mediating tumor cell invasion and migration., [UniProtKB, PubMed, PubMed]; PITPNC1 Suppress CD8[+] T cell immune function and promote radioresistance in rectal cancer by modulating FASN/CD155. Publication Status: Online-Only, [RefSeq, PubMed]; SCD155 as a potential marker for diagnosing the vascular invasion in hepatic alveolar echinococcosis., [RefSeq, PubMed]; The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein light chain Tctex-1/DYNLT1. The gene is specific to the primate lineage, and serves as a cellular receptor for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 17, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B4DTS9;P15152;Q15267;Q15268;Q96BJ1", "ec_number_list": [], "go_molecular_function": "GO:0050839 cell adhesion molecule binding;GO:0001618 virus receptor activity;GO:0048018 receptor ligand activity;GO:0038023 signaling receptor activity;GO:0098631 cell adhesion mediator activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0005925 focal adhesion", "go_biological_process": "GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;GO:0045953 negative regulation of natural killer cell mediated cytotoxicity;GO:0045954 positive regulation of natural killer cell mediated cytotoxicity;GO:0042271 susceptibility to natural killer cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "P15151-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24723-1", "uniprot_id": [ { "id": "KPCL_HUMAN", "url": "https://www.uniprot.org/uniprot/P24723", "type": "external" } ], "mass": 77828.0, "length": 683, "protein_name": "Protein kinase C eta type", "gene_name": "PRKCH", "organism": "Human", "refseq_name": "protein kinase C eta type", "refseq_ac": [ { "id": "NP_006246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006246", "type": "external" } ], "gene_names_uniprotkb": "PRKCH; PKCL; PRKCL", "gene_names_refseq": "PKC-L; PKCL; PRKCH; PRKCL; nPKC-eta; uORF2", "protein_names_uniprotkb": "Protein kinase C eta type; 2.7.11.13; PKC-L; nPKC-eta", "protein_names_refseq": "Protein uPEP2; protein kinase C eta type", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); cerebral infarction (Disease Ontology:DOID:3526)", "pathway": " (hsa:5583); (R-HSA-114508); (R-HSA-418597)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10806212;10954748;11080611;11112424;11237011;11313909;11413485;11772428;11805119;12120503;12473186;1347957;15489897;15632189;15951850;16923326;16973127;17146445;17206144;17344846;18434541;18577758;18780722;19033211;19114660;1939224;19413330;19797084;1986216;20058876;20558593;2175712;21820409;22304920;23186163;24275569;26154972;28502923;28904123;28939105;29482336;29493099;29557506;30410026;30562553;30779550;31154438;31217245;31844290;31848261;31875586;32157095;32350084;32357974;32387766;32938616;32983136;33141586;33912179;33981976;34087483;34357683;34593629;35051231;35580925;36284347;37074911;37217939;37938771;7559455;7595566;7937899;7988719;9601053;9930701", "class_list": "", "function": "Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial tight junction integrity and foam cell formation, and is required for glioblastoma proliferation and apoptosis prevention in MCF-7 cells. In keratinocytes, binds and activates the tyrosine kinase FYN, which in turn blocks epidermal growth factor receptor (EGFR) signaling and leads to keratinocyte growth arrest and differentiation. Associates with the cyclin CCNE1-CDK2-CDKN1B complex and inhibits CDK2 kinase activity, leading to RB1 dephosphorylation and thereby G1 arrest in keratinocytes. In association with RALA activates actin depolymerization, which is necessary for keratinocyte differentiation. In the pre-B cell receptor signaling, functions downstream of BLNK by up-regulating IRF4, which in turn activates L chain gene rearrangement. Regulates epithelial tight junctions (TJs) by phosphorylating occludin (OCLN) on threonine residues, which is necessary for the assembly and maintenance of TJs. In association with PLD2 and via TLR4 signaling, is involved in lipopolysaccharide (LPS)-induced RGS2 down-regulation and foam cell formation. Upon PMA stimulation, mediates glioblastoma cell proliferation by activating the mTOR pathway, the PI3K/AKT pathway and the ERK1-dependent phosphorylation of ELK1. Involved in the protection of glioblastoma cells from irradiation-induced apoptosis by preventing caspase-9 activation. In camptothecin-treated MCF-7 cells, regulates NF-kappa-B upstream signaling by activating IKBKB, and confers protection against DNA damage-induced apoptosis. Promotes oncogenic functions of ATF2 in the nucleus while blocking its apoptotic function at mitochondria. Phosphorylates ATF2 which promotes its nuclear retention and transcriptional activity and negatively regulates its mitochondrial localization., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PRKCH polymorphism is associated with rheumatoid arthritis in a Chinese population., [RefSeq, PubMed]; Product of an upstream open reading frame (ORF) of PRKCH which regulates translation of the downstream protein kinase C eta (PKC-eta) ORF (PubMed:19797084, PubMed:34593629). Functions as a repressive element that maintains low basal levels of PKC-eta in growing cells but enhances its expression during stress conditions induced by amino acid starvation in a EIF2AK4/GCN2-dependent manner (PubMed:19797084, PubMed:34593629). In addition to its role in regulating PKC-eta translation, also inhibits the kinase activity of PKC-eta as well as other protein kinases including PRKCD, PRKCQ and PRKCE but not PRKCA, PRKCG or PRKCZ (PubMed:34593629)., [UniProtKB, PubMed, PubMed]; Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in this gene are associated with susceptibility to cerebral infarction. [provided by RefSeq, Sep 2015]., [RefSeq]; Study provides mechanistic evidence that inhibition of PKCeta isoform alleviated mitochondrial injuries and function, attenuated apoptosis, and renal fibrosis in high glucose (HG)-cultured advanced oxidation protein products (AOPPs)-induced HK-2 cells. Thus, AOPPs-induced mitochondrial dysfunction and oxidative stress cause tubulointerstitial fibrosis in diabetic nephropathy via activation of the PKCeta isoform., [RefSeq, PubMed]; The author show that knockdown of PKCeta caused resistance to chemotherapeutic drug-induced apoptosis and this could be explained by the induction of cellular senescence., [RefSeq, PubMed]; These results suggest that PKCeta utilizes the ERK signaling pathway to protect against ubiquitin-mediated proteasomal degradation of Mcl-1, [RefSeq, PubMed]; Translational regulation could provide an additional level for controlling the expression of PKC family members., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DJN5;Q16246;Q8NE03", "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:0004699 diacylglycerol-dependent, calcium-independent serine/threonine kinase activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion 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:0060252 positive regulation of glial cell proliferation;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P24723-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TF45-1", "uniprot_id": [ { "id": "ZN418_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TF45", "type": "external" } ], "mass": 77858.0, "length": 676, "protein_name": "Zinc finger protein 418", "gene_name": "ZNF418", "organism": "Human", "refseq_name": "zinc finger protein 418 isoform a", "refseq_ac": [ { "id": "NP_001303956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303956", "type": "external" } ], "gene_names_uniprotkb": "ZNF418; KIAA1956", "gene_names_refseq": "ZFP418; ZNF418", "protein_names_uniprotkb": "Zinc finger protein 418", "protein_names_refseq": "zinc finger protein 418 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:147686); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 33, "publication_id_list": "10235266;10330177;11237011;11395415;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;18084723;2028256;2163759;25274305;26813693;28273063;29065170;29270239;31289231;31427381;33249983;33968037;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "A high-throughput screening identifies ZNF418 as a novel regulator of the ubiquitin-proteasome system and autophagy-lysosomal pathway., [RefSeq, PubMed]; Integration analysis of esophageal squamous cell carcinoma (ESCC) identified five hyper-methylated CpG sites in STK3, ZNF418 and ZNF542 that can be used for effective methylation-based testing for ESCC diagnosis. Publication Status: Online-Only, [RefSeq, PubMed]; The deficiency of ZNF418 enhanced the phosphorylation level of c-jun, and overexpression of ZNF418 suppressed the phosphorylation level of c-jun in vivo and in vitro Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest that ZNF418 is a member of the zincfinger transcription factor family and may act as a negative regulator in MAPK signaling pathway., [RefSeq, PubMed]; Transcriptional repressor (PubMed:18084723). May play a role as regulator of the ubiquitin-proteasome system and autophagy-lysosomal pathway (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": 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": "Q2M1S2;Q670L5;Q96N18", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001217 DNA-binding transcription repressor activity;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0032434 regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0016237 microautophagy;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8TF45-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVA0-1", "uniprot_id": [ { "id": "KTNB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVA0", "type": "external" } ], "mass": 72334.0, "length": 655, "protein_name": "Katanin p80 WD40 repeat-containing subunit B1", "gene_name": "KATNB1", "organism": "Human", "refseq_name": "katanin p80 WD40 repeat-containing subunit B1", "refseq_ac": [ { "id": "NP_005877", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005877", "type": "external" } ], "gene_names_uniprotkb": "KATNB1", "gene_names_refseq": "KATNB1; KAT; LIS6", "protein_names_uniprotkb": "Katanin p80 WD40 repeat-containing subunit B1; Katanin p80 subunit B1; p80 katanin", "protein_names_refseq": "katanin (80 kDa); katanin p80 (WD repeat containing) subunit B 1; katanin p80 (WD40-containing) subunit B 1; katanin p80 WD40 repeat-containing subunit B1; katanin p80 WD40-containing subunit B1; katanin p80 subunit B1; p80 katanin", "tax_id": 9606, "disease": "idiopathic scoliosis (Disease Ontology:DOID:0060250); lissencephaly 6 (Disease Ontology:DOID:0112236); microcephaly (Disease Ontology:DOID:10907)", "pathway": " (hsa:10300)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10751153;11237011;16203747;17081983;19651622;23186163;24486153;25521378;25521379;26929214;26992070;27920218;28218747;28649982;28657654;28832583;28904123;29242379;29437277;29493099;29557506;30379171;30779550;31530632;31844290;32157095;32357974;32387766;32488085;32897882;32938616;33274499;33298915;33936100;33968037;34087483;34137788;34202629;34357683;34509645;35051231;35580925;36241641;39894887;9568719;9658175", "class_list": "", "function": "Katanin P60 and P80 in papillary thyroid carcinoma patients: Indicators for exacerbated tumor features and worse disease-free survival., [RefSeq, PubMed]; Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]., [RefSeq]; Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. 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. Microtubule release within the cell body of neurons may be required for their transport into neuronal processes by microtubule-dependent motor proteins. This transport is required for axonal growth., [UniProtKB, HAMAP, PubMed]; WDR62 localizes katanin at spindle poles to ensure synchronous chromosome segregation., [RefSeq, PubMed]; Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "A6NCG6;O60620", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0046982 protein heterodimerization activity;GO:0070840 dynein complex binding;GO:0060590 ATPase regulator activity", "go_cellular_component": "GO:0008352 katanin complex;GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0007079 mitotic chromosome movement towards spindle pole;GO:0051013 microtubule severing;GO:0031117 positive regulation of microtubule depolymerization;GO:0010976 positive regulation of neuron projection development;GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9BVA0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP64-1", "uniprot_id": [ { "id": "ZCC17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP64", "type": "external" } ], "mass": 27570.0, "length": 241, "protein_name": "Zinc finger CCHC domain-containing protein 17", "gene_name": "ZCCHC17", "organism": "Human", "refseq_name": "zinc finger CCHC domain-containing protein 17 isoform i", "refseq_ac": [ { "id": "NP_001269503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269503", "type": "external" } ], "gene_names_uniprotkb": "ZCCHC17; HSPC243; HSPC251; LDC4; PS1D", "gene_names_refseq": "HSPC251; PS1D; ZCCHC17; pNO40", "protein_names_uniprotkb": "Zinc finger CCHC domain-containing protein 17; Nucleolar protein of 40 kDa; PS1D protein; Pnn-interacting nucleolar protein; Putative S1 RNA-binding domain protein; pNO40", "protein_names_refseq": "nucleolar protein 40; nucleolar protein of 40 kDa; pnn-interacting nucleolar protein; putative S1 RNA binding domain protein; zinc finger CCHC domain-containing protein 17 isoform i; zinc finger CCHC domain-containing protein 17; zinc finger, CCHC domain containing 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:51538)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;12893261;18212344;18669648;20068231;21406692;23186163;23481700;24715725;29557506;31844290;32157095;32938616;33592498;35051231;36010968;37217939;38050142;38630575", "class_list": "", "function": "Molecular cloning and characterization; it is localized to nucleoli of diverse cultured cells, with some concentration in the granular component of nucleoli, [RefSeq, PubMed]; ZCCHC17 Modulates Neuronal RNA Splicing and Supports Cognitive Resilience in Alzheimer's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; ZCCHC17 knockdown phenocopies Alzheimer's disease-related loss of synaptic proteins and hyperexcitability., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DY38;D3DPN4;Q6PKH4;Q9NYG4;Q9P0M8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0022625 cytosolic large ribosomal subunit;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0043489 RNA stabilization", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9NP64-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40925-1", "uniprot_id": [ { "id": "MDHC_HUMAN", "url": "https://www.uniprot.org/uniprot/P40925", "type": "external" } ], "mass": 36426.0, "length": 334, "protein_name": "Malate dehydrogenase, cytoplasmic", "gene_name": "MDH1", "organism": "Human", "refseq_name": "malate dehydrogenase, cytoplasmic isoform 2", "refseq_ac": [ { "id": "NP_001186040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186040", "type": "external" } ], "gene_names_uniprotkb": "MDH1; MDHA", "gene_names_refseq": "DEE88; EIEE88; HEL-S-32; KAR; MDH-s; MDH1; MDHA; MGC:1375; MOR2", "protein_names_uniprotkb": "Malate dehydrogenase, cytoplasmic; 1.1.1.37; Aromatic alpha-keto acid reductase; Cytosolic malate dehydrogenase; KAR", "protein_names_refseq": "aromatic alpha-keto acid reductase; cytosolic malate dehydrogenase; diiodophenylpyruvate reductase; epididymis secretory protein Li 32; malate dehydrogenase 1, NAD (soluble); malate dehydrogenase, cytoplasmic isoform 2; malate dehydrogenase, cytoplasmic; malate dehydrogenase, peroxisomal; soluble malate dehydrogenase", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 88 (Disease Ontology:DOID:0112222)", "pathway": " (hsa:4190); (R-HSA-9856872)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15565635;16139798;16408927;16920706;19413330;19608861;20068231;20166139;21081667;22299025;22693256;22905912;23481700;24275569;2449162;25502872;25576301;25637873;25892735;27543614;27600516;2775751;27846572;27920218;28218747;28228285;28446606;28467828;28514659;28832583;28904123;29242379;29314611;29431636;29437277;29557506;29632046;29632711;29789417;30397120;3052244;30573663;30626607;31154438;31217245;31530632;31538237;31795176;31844290;31848261;32119511;32157095;32161166;32162841;32350084;32387766;32488085;32938616;32983136;33043033;33141586;33214551;33298915;33592498;33691108;33936100;33968037;34012073;34019948;34078123;34357683;34433824;34509645;34561969;34725712;35051231;35138101;35154160;35251023;35580925;35879546;36241641;37938771;38665916;4687397;7895732;8597574;8786100", "class_list": "", "function": "Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH (PubMed:2449162, PubMed:3052244). Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxidative phosphorylation (PubMed:31538237). Catalyzes the reduction of 2-oxoglutarate to 2-hydroxyglutarate, leading to elevated reactive oxygen species (ROS) (PubMed:34012073)., [UniProtKB, PubMed, PubMed, PubMed]; Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH. Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxidative phosphorylation. Catalyzes the reduction of 2-oxoglutarate to 2-hydroxyglutarate, leading to elevated reactive oxygen species (ROS)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of MDH1 is maintained in the adult heart but is not present in levels as high as in the fetus, [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [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": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "B2R5V5;B4DUN2;B7Z3I7;F5H098;Q6I9V0", "ec_number_list": [ { "id": "1.1.1.399", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.399", "type": "external" }, { "id": "1.1.1.95", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.95", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" } ], "go_molecular_function": "GO:0030060 L-malate dehydrogenase (NAD+) activity;GO:0004470 malic enzyme activity;GO:0047995 (2R)-hydroxyphenylpyruvate reductase [NAD(P)H] activity;GO:0047860 diiodophenylpyruvate reductase (NAD+) activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006739 NADP+ metabolic process;GO:0006099 tricarboxylic acid cycle;GO:0006107 oxaloacetate metabolic process;GO:0019674 NAD+ metabolic process;GO:0006108 malate metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P40925-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5Y2-1", "uniprot_id": [ { "id": "NUBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5Y2", "type": "external" } ], "mass": 28825.0, "length": 271, "protein_name": "Cytosolic Fe-S cluster assembly factor NUBP2", "gene_name": "NUBP2", "organism": "Human", "refseq_name": "cytosolic Fe-S cluster assembly factor NUBP2 isoform 2", "refseq_ac": [ { "id": "NP_001271430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271430", "type": "external" } ], "gene_names_uniprotkb": "NUBP2", "gene_names_refseq": "CFD1; CIAO6; NBP 2; NUBP2", "protein_names_uniprotkb": "Cytosolic Fe-S cluster assembly factor NUBP2; NBP 2; Nucleotide-binding protein 2", "protein_names_refseq": "cytosolic Fe-S cluster assembly factor NUBP2 isoform 2; cytosolic Fe-S cluster assembly factor NUBP2; homolog of yeast cytosolic Fe-S cluster deficient 1; nucleotide binding protein 2 (MinD homolog, E. coli); nucleotide-binding protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10101); (R-HSA-2564830)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10486206;11237011;18573874;18625724;20802492;22223895;22678361;22678362;23150669;24714562;24715725;26154972;26992070;27846572;28904123;29351928;29557506;31530632;31844290;32157095;32502341;32938616;32983136;33141586;33592498;33717175;33912179;33936100;34019948;34357683;34561969;34932366;35051231;35132862;35580925;36010968;40596516;40914422", "class_list": "", "function": "Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. Required for maturation of extramitochondrial Fe-S proteins. The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins. Negatively regulates cilium formation and structure., [UniProtKB, UniProtKB, HAMAP, UniProtKB, UniProtKB]; This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DU80;Q9NWB2", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0000166 nucleotide binding;GO:0051536 iron-sulfur cluster binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005814 centriole;GO:0005930 axoneme", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9Y5Y2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51159-1", "uniprot_id": [ { "id": "RB27A_HUMAN", "url": "https://www.uniprot.org/uniprot/P51159", "type": "external" } ], "mass": 24868.0, "length": 221, "protein_name": "Ras-related protein Rab-27A", "gene_name": "RAB27A", "organism": "Human", "refseq_name": "ras-related protein Rab-27A", "refseq_ac": [ { "id": "NP_004571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004571", "type": "external" } ], "gene_names_uniprotkb": "RAB27A; RAB27", "gene_names_refseq": "GS2; HsT18676; RAB27A; RAB27; RAM", "protein_names_uniprotkb": "Ras-related protein Rab-27A; 3.6.5.2; GTP-binding protein Ram; Rab-27", "protein_names_refseq": "GTP-binding protein Ram; mutant Ras-related protein Rab-27A; rab-27; ras-related protein Rab-27A", "tax_id": 9606, "disease": "hemophagocytic lymphohistiocytosis (Disease Ontology:DOID:0050120); Hermansky-Pudlak syndrome 1 (Disease Ontology:DOID:0060539); Griscelli syndrome type 2 (Disease Ontology:DOID:0060833); platelet storage pool deficiency (Disease Ontology:DOID:2223); non-Langerhans-cell histiocytosis (Disease Ontology:DOID:4330)", "pathway": " (hsa:5873); (R-HSA-264876); (R-HSA-6798695); (R-HSA-8873719); (R-HSA-8876198); (R-HSA-9824585)", "pathway_count": 6, "publication_count": 327, "publication_id_list": "10521251;10571040;10587587;10818110;10835631;10931946;10990452;11038176;11141079;11179213;11237011;11389151;11447212;11462236;11493706;11516400;11532965;11675392;11689439;11703925;11707400;11746448;11784320;11856727;11904301;11917121;11964381;12058051;12058346;12062444;12221131;12244319;12364329;12427552;12446441;12475894;12531900;12643545;12684051;12944476;12972505;1321344;14617756;14704853;15096524;15138286;1516130;15247254;1528899;15331542;1537333;1537334;15388334;15528189;15543135;15548590;15561770;15692570;15695812;15729346;15878329;15878854;15914536;15958533;16158220;16158222;16207721;16303920;16373702;16401880;16407158;16410077;1648736;16525024;16525121;16571673;16641372;16714477;16754960;16880209;16950109;16984975;17043139;17081065;17114793;17132146;17182843;17189207;17208202;17237785;17239822;17287728;17411337;17488286;17547437;17562788;17574030;17646400;17671165;17678623;17952075;18076383;18094055;18354496;18367545;1845915;18477474;18483556;18532927;18559336;18585354;18664496;18697795;18701652;18779367;18804435;18812475;1900457;19109890;19345684;19389701;19403694;19490898;19603039;19620288;19651622;19656848;19717472;19725050;19729655;19745841;20008558;20048159;20154091;20159109;20159556;20166139;20305638;20308425;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;21091435;21145486;2115402;21183348;21187289;21216617;21273506;21308844;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21713314;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22223895;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22694141;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23481700;23645161;23650620;23678941;23684622;23713133;23839779;24023390;24267888;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25091901;25341920;25343031;25472813;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26694611;2669954;26925400;26936971;26969162;26992070;27041585;27044746;27103185;27246931;27329675;27600516;28218747;2822027;28467828;28510447;28832583;28904123;29242379;29393594;29557506;29789417;30315122;30429286;30515787;30573663;30771381;31154438;31184304;31217245;31848261;32157095;32357974;32488085;32723473;32938616;32983136;33100333;33141586;33392160;33485965;33592498;33717175;33912179;34357683;34433824;34932366;35051231;35154160;35308027;35580127;35580925;36215666;37388727;37641131;37685910;37938771;38326867;3896518;40914422;7592656;7626024;7688123;7813420;7911226;7957092;7991565;8144603;8164745;8306979;8349690;8375503;8408203;8513495;8522602;8631982;8662963;8692836;8836150;8863739;8916141;8921401;9020086;9020161;9030515;9066979;9136770;9166668;9207799;9323142;9590177;9631292;9733780;9758418", "class_list": "", "function": "Circ_0029463 promotes osteoclast differentiation by mediating miR-134-5p/Rab27a axis. Publication Status: Online-Only, [RefSeq, PubMed]; Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A). Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of RAB27A in Oral Squamous Cell Carcinoma Promotes Tumor Migration and Invasion via Modulation of EGFR Membrane Stability. Publication Status: Online-Only, [RefSeq, PubMed]; SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; 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 (PubMed:30771381). RAB27A regulates homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion (PubMed:30771381). Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse (PubMed:18812475)., [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": 4, "reported_glycation": 0, "reported_snv": 4, "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": "O00195;Q6FI40;Q9UIR9;Q9Y5U3", "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": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.4.21.-", "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": "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": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "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": "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": "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": "3.6.1.6", "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": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "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": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019904 protein domain specific binding;GO:0019003 GDP binding;GO:0031489 myosin V binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0030141 secretory granule;GO:0030425 dendrite", "go_biological_process": "GO:0071985 multivesicular body sorting pathway;GO:1990182 exosomal secretion;GO:1903307 positive regulation of regulated secretory pathway;GO:0010628 positive regulation of gene expression;GO:0050766 positive regulation of phagocytosis", "synthesized_glycan_count": 0, "hit_score": 33.0, "record_id": "P51159-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95069-1", "uniprot_id": [ { "id": "KCNK2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95069", "type": "external" } ], "mass": 47093.0, "length": 426, "protein_name": "Potassium channel subfamily K member 2", "gene_name": "KCNK2", "organism": "Human", "refseq_name": "potassium channel subfamily K member 2 isoform a", "refseq_ac": [ { "id": "NP_001017424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424", "type": "external" } ], "gene_names_uniprotkb": "KCNK2; TREK1; TREK", "gene_names_refseq": "K2p2.1; KCNK2; TPKC1; TREK-1; TREK1; TREK; hTREK-1c; hTREK-1e", "protein_names_uniprotkb": "Potassium channel subfamily K member 2; K2P2.1; Outward rectifying potassium channel protein TREK-1; TREK-1 K(+) channel subunit; Two pore domain potassium channel TREK1; Two pore potassium channel TPKC1", "protein_names_refseq": "K2P2.1 potassium channel; TREK-1 K(+) channel subunit; TWIK-related potassium channel 1; outward rectifying potassium channel protein TREK-1; potassium channel subfamily K member 2 isoform a; potassium channel, two pore domain subfamily K, member 2; potassium inwardly-rectifying channel, subfamily K, member 2; tandem-pore-domain potassium channel TREK-1; two pore domain potassium channel TREK-1; two pore domain potassium channel TREK1; two pore potassium channel TPKC1; two-pore potassium channel 1", "tax_id": 9606, "disease": "heart conduction disease (Disease Ontology:DOID:10273); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:3776); (R-HSA-1299503); (R-HSA-5576886)", "pathway_count": 3, "publication_count": 28, "publication_id_list": "10321245;10784345;11237011;11319549;11319556;15795311;16006563;16382106;17652773;19536465;19622790;19840997;20133877;20393194;20410120;23169818;24196565;24715725;26642364;30573346;32157095;35051231;35177207;36410022;37014157;37184053;38253038;38605031", "class_list": "", "function": "Activation of TREK-1 (K2P2.1) potassium channels protects against influenza A-induced lung injury., [RefSeq, PubMed]; Does not display channel activity but reduces the channel activity of isoform 1 and isoform 2 and reduces cell surface expression of isoform 2., [UniProtKB, UniProtKB]; Involvement of TREK1 channels in the proliferation of human hepatic stellate LX-2 cells., [RefSeq, PubMed]; K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. Voltage sensing is coupled to K(+) electrochemical gradient in an 'ion flux gating' mode where outward but not inward ion flow opens the gate. Converts to voltage-independent 'leak' conductance mode upon stimulation by various stimuli including mechanical membrane stretch, acidic pH, heat and lipids. Reversibly converts between a voltage-insensitive K(+) 'leak' channel and a voltage-dependent outward rectifying K(+) channel in a phosphorylation-dependent manner (By similarity) (PubMed:10321245, PubMed:10784345, PubMed:11319556, PubMed:23169818, PubMed:30573346, PubMed:38605031). Homo- and heterodimerizes to form functional channels with distinct regulatory and gating properties (By similarity). In trigeminal ganglia sensory neurons, the heterodimer of KCNK2/TREK-1 and KCNK18/TRESK inhibits neuronal firing and neurogenic inflammation by stabilizing the resting membrane potential at K(+) equilibrium potential as well as by regulating the threshold of action potentials and the spike frequency (By similarity). At trigeminal A-beta afferent nerves, the heterodimer of KCNK2/TREK-1 and KCNK4/TRAAK is mostly coexpressed at nodes of Ranvier where it conducts voltage-independent mechanosensitive and thermosensitive currents, allowing rapid action potential repolarization, high speed and high frequence saltatory conduction on myelinated nerves to ensure prompt sensory responses (By similarity). In hippocampal astrocytes, the heterodimer of KCNK2/TREK-1 and KCNK1/TWIK-1 allows passive K(+) conductance under basal conditions, but changes ion selectivity and becomes permeable to L-glutamate and Cl(-) ions upon binding to G protein subunit GNG4 in stimulated astrocytes. Mediates rapid L-glutamate release in response to activation of G protein-coupled receptors, such as F2R and CNR1 (By similarity). In hippocampal pyramidal neurons, the homodimer of KCNK2/TREK-1 contributes to gamma-aminobutyric acid (GABA) B-induced slow inhibitory postsynaptic potential. Associates with AKAP5 and Gs-protein-coupled receptor B2AR at postsynaptic dense bodies and converts to a leak channel no longer sensitive to stimulation by arachidonic acid, acidic pH or mechanical stress, nor inhibited by Gq-coupled receptors but still under the negative control of Gs-coupled receptors (By similarity). Permeable to other monovalent cations such as Rb(+) and Cs(+) (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; MiR-132-3p promotes heat stimulation-induced esophageal squamous cell carcinoma tumorigenesis by targeting KCNK2., [RefSeq, PubMed]; Prolonged stretching of rat uteri causes hypoxia and inhibits contractility via potassium channel TREK1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 2, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A1Z1V3;A8K618;B2RCS4;B7ZL56;D3DTA5;Q5DP47;Q5DP48;Q9NRT2;Q9UNE3", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0019870 potassium channel inhibitor activity;GO:0015271 outward rectifier potassium channel activity;GO:0022841 potassium ion leak channel activity;GO:0098782 mechanosensitive potassium channel activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0044305 calyx of Held;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030425 dendrite", "go_biological_process": "GO:0050976 detection of mechanical stimulus involved in sensory perception of touch;GO:0003231 cardiac ventricle development;GO:1900039 positive regulation of cellular response to hypoxia;GO:0007613 memory;GO:0019228 neuronal action potential", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "O95069-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBE8-1", "uniprot_id": [ { "id": "KLH23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBE8", "type": "external" } ], "mass": 63923.0, "length": 558, "protein_name": "Kelch-like protein 23", "gene_name": "KLHL23", "organism": "Human", "refseq_name": "kelch-like protein 23", "refseq_ac": [ { "id": "NP_653312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653312", "type": "external" } ], "gene_names_uniprotkb": "KLHL23", "gene_names_refseq": "DITHP; KLHL23", "protein_names_uniprotkb": "Kelch-like protein 23", "protein_names_refseq": "kelch-like 23; kelch-like protein 23", "tax_id": 9606, "disease": "", "pathway": " (hsa:100526832); (hsa:151230)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "11237011;23481700;24714562;25576301;25892735;26992070;27862975;28228285;28514659;28832583;28904123;29242379;29393594;29769354;30315122;30429286;31092671;31154438;31844290;31848261;32157095;32161166;32357974;32387766;32938616;33691108;33717175;33912179;33968037;34171305;34185709;34509645;35051231;36010968;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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8N9B9;Q96FT8", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q8NBE8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63027-1", "uniprot_id": [ { "id": "VAMP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P63027", "type": "external" } ], "mass": 12663.0, "length": 116, "protein_name": "Vesicle-associated membrane protein 2", "gene_name": "VAMP2", "organism": "Human", "refseq_name": "vesicle-associated membrane protein 2 isoform 1", "refseq_ac": [ { "id": "NP_055047", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055047", "type": "external" } ], "gene_names_uniprotkb": "VAMP2; SYB2", "gene_names_refseq": "NEDHAHM; SYB2; VAMP-2; VAMP2", "protein_names_uniprotkb": "Vesicle-associated membrane protein 2; Synaptobrevin-2; VAMP-2", "protein_names_refseq": "synaptobrevin 2; vesicle-associated membrane protein 2 isoform 1", "tax_id": 9606, "disease": "neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (MONDO:MONDO:0032900)", "pathway": " (hsa:6844); (R-HSA-1445148); (R-HSA-181429); (R-HSA-181430); (R-HSA-199992); (R-HSA-210500); (R-HSA-212676); (R-HSA-264642); (R-HSA-264876); (R-HSA-422356); (R-HSA-432720); (R-HSA-432722); (R-HSA-449836); (R-HSA-5250955); (R-HSA-5250958); (R-HSA-5250981); (R-HSA-5250982); (R-HSA-5250989); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-888590); (R-HSA-9609523); (R-HSA-9662360)", "pathway_count": 23, "publication_count": 491, "publication_id_list": 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"class_list": "", "function": "Alpha-Synuclein Disrupts Vesicle Fusion by Two Mutant-Specific Mechanisms., [RefSeq, PubMed]; Evaluation of cerebrospinal fluid levels of synaptic vesicle protein, VAMP-2, across the sporadic Alzheimer's disease continuum. Publication Status: Online-Only, [RefSeq, PubMed]; Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility. Publication Status: Online-Only, [RefSeq, PubMed]; SNAREs (soluble N-ethylmaleimide-sensitive factor-attachment protein receptors) are essential proteins for intracellular membrane fusion. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four-helix bundle whose assembly releases energy that drives membrane fusion. The core SNARE complex typically consists of four alpha-helical domains, three from target membrane SNAREs (t-SNAREs) and one from a vesicle SNARE (v-SNARE) (PubMed:10036234, PubMed:30929742). VAMP2 is a v-SNARE assembling into a SNARE complex with the t-SNAREs SNAP25 and STX1A to mediate the fusion of synaptic vesicles with the presynaptic plasma membrane in neurotransmitter release (PubMed:30929742). Also functions in compensatory endocytosis for synaptic vesicle recycling (By similarity). In adipocytes, it is involved in the insulin-dependent exocytosis of GLUT4 storage vesicles (By similarity). Independently of its SNARE activity, it could modulate the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [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": 9, "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": "P19065;Q9BUC2", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005543 phospholipid binding;GO:0048306 calcium-dependent protein binding;GO:0019905 syntaxin binding;GO:0000149 SNARE binding", "go_cellular_component": "GO:0070032 synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex;GO:0060203 clathrin-sculpted glutamate transport vesicle membrane;GO:0070083 clathrin-sculpted monoamine transport vesicle membrane;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:1902259 regulation of delayed rectifier potassium channel activity;GO:0015031 protein transport;GO:0032869 cellular response to insulin stimulus;GO:0090316 positive regulation of intracellular protein transport;GO:0060627 regulation of vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 49.4, "record_id": "P63027-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQS3-1", "uniprot_id": [ { "id": "NECT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQS3", "type": "external" } ], "mass": 61002.0, "length": 549, "protein_name": "Nectin-3", "gene_name": "NECTIN3", "organism": "Human", "refseq_name": "nectin-3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001230215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230215", "type": "external" } ], "gene_names_uniprotkb": "NECTIN3; PRR3; PVRL3", "gene_names_refseq": "CD113; CDW113; NECTIN-3; NECTIN3; PPR3; PRR3; PVRL3; PVRR3", "protein_names_uniprotkb": "Nectin-3; CDw113; Nectin cell adhesion molecule 3; Poliovirus receptor-related protein 3", "protein_names_refseq": "nectin 3; nectin-3 isoform 2 precursor; poliovirus receptor-related 3; poliovirus receptor-related protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:25945); (R-HSA-418990); (R-HSA-420597)", "pathway_count": 3, "publication_count": 41, "publication_id_list": "10.1101/2023.09.13.557529;10225955;11024295;11237011;11544254;12050160;12759359;15741237;16216929;16467305;17967169;19011627;19354288;19901323;22902367;23481700;25372031;25576301;26038560;27680706;29557506;30429286;30459171;31020640;31154438;31848261;32161166;32488085;32938616;33592498;33968037;34087483;34171305;35051231;35289036;36241641;37074911;38665916;7806582;9219219;9845526", "class_list": "", "function": "Cell adhesion molecule that promotes cell-cell adhesion through heterophilic trans-interactions with nectins-like or other nectins, such as trans-interaction with NECTIN2 at Sertoli-spermatid junctions (PubMed:16216929). Trans-interaction with PVR induces activation of CDC42 and RAC small G proteins through common signaling molecules such as SRC and RAP1 (PubMed:16216929). Induces endocytosis-mediated down-regulation of PVR from the cell surface, resulting in reduction of cell movement and proliferation (PubMed:16216929). Involved in axon guidance by promoting contacts between the commissural axons and the floor plate cells (By similarity). Also involved in the formation of cell-cell junctions, including adherens junctions and synapses (By similarity). Promotes formation of checkerboard-like cellular pattern of hair cells and supporting cells in the auditory epithelium via heterophilic interaction with NECTIN1: NECTIN1 is present in the membrane of hair cells and associates with NECTIN3 on supporting cells, thereby mediating heterotypic adhesion between these two cell types (By similarity). Plays a role in the morphology of the ciliary body (By similarity)., [UniProtKB, PubMed, UniProtKB]; This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "E9PFR0;Q6NVZ3;Q8NC05;Q8WVU4;Q9BVA9;Q9Y412", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0050839 cell adhesion molecule binding;GO:0098631 cell adhesion mediator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005912 adherens junction;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0046718 symbiont entry into host cell;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;GO:0090103 cochlea morphogenesis;GO:0061951 establishment of protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9NQS3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1Q7-1", "uniprot_id": [ { "id": "PED1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1Q7", "type": "external" } ], "mass": 51782.0, "length": 454, "protein_name": "PC-esterase domain-containing protein 1A", "gene_name": "PCED1A", "organism": "Human", "refseq_name": "PC-esterase domain-containing protein 1A isoform 2", "refseq_ac": [ { "id": "NP_001258097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258097", "type": "external" } ], "gene_names_uniprotkb": "PCED1A; C20orf81; FAM113A", "gene_names_refseq": "C20orf81; FAM113A; PCED1A; bA12M19.1", "protein_names_uniprotkb": "PC-esterase domain-containing protein 1A; Protein FAM113A; Sarcoma antigen NY-SAR-23", "protein_names_refseq": "PC-esterase domain-containing protein 1A isoform 2; PC-esterase domain-containing protein 1A; family with sequence similarity 113, member A; sarcoma antigen NY-SAR-23", "tax_id": 9606, "disease": "", "pathway": " (hsa:64773)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;12601173;28514659;28832583;30779550;31154438;31844290;31848261;32157095;32938616;33091337;33968037;35580925;36010968", "class_list": "", "function": "The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5JUA5;Q5JUA6;Q6PK19;Q86WF5;Q96CG7;Q9H1Q6;Q9H6D1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9H1Q7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15256-1", "uniprot_id": [ { "id": "PTPRR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15256", "type": "external" } ], "mass": 73834.0, "length": 657, "protein_name": "Receptor-type tyrosine-protein phosphatase R", "gene_name": "PTPRR", "organism": "Human", "refseq_name": "receptor-type tyrosine-protein phosphatase R isoform 3", "refseq_ac": [ { "id": "NP_001193944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193944", "type": "external" } ], "gene_names_uniprotkb": "PTPRR; ECPTP; PTPRQ", "gene_names_refseq": "EC-PTP; PCPTP1; PTP-SL; PTPBR7; PTPRQ; PTPRR", "protein_names_uniprotkb": "Receptor-type tyrosine-protein phosphatase R; 3.1.3.48; Ch-1PTPase; NC-PTPCOM1; Protein-tyrosine phosphatase PCPTP1; R-PTP-R", "protein_names_refseq": "Ch-1 PTPase; R-PTP-R; ch-1PTPase; protein tyrosine phosphatase Cr1PTPase; protein-tyrosine phosphatase NC-PTPCOM1; protein-tyrosine phosphatase PCPTP1; receptor-type tyrosine-protein phosphatase R isoform 3; receptor-type tyrosine-protein phosphatase R", "tax_id": 9606, "disease": "", "pathway": " (hsa:5801)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10705342;11147789;11237011;16441242;25326458;25576301;26375851;28657654;30379171;31653698;31844290;32133801;32387766;35051231;35494241;36284347;38280930;7557444", "class_list": "", "function": "Identification of PTPRR and JAG1 as key genes in castration-resistant prostate cancer by integrated bioinformatics methods()., [RefSeq, PubMed]; Re-expression of epigenetically silenced PTPRR by histone acetylation sensitizes RAS-mutant lung adenocarcinoma to SHP2 inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that protein tyrosine phosphatase receptor type R (PTPRR) expression might have utility as a prognostic marker for predicting overall survival., [RefSeq, PubMed]; Sequesters mitogen-activated protein kinases (MAPKs) such as MAPK1, MAPK3 and MAPK14 in the cytoplasm in an inactive form. The MAPKs bind to a dephosphorylated kinase interacting motif, phosphorylation of which by the protein kinase A complex releases the MAPKs for activation and translocation into the nucleus (By similarity)., [UniProtKB]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [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": 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": 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": 34, "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": "B2R5Z7;B7Z3J1;F5GXR7;O00342;Q92682;Q9UE65", "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:0019901 protein kinase binding;GO:0005001 transmembrane receptor protein tyrosine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030054 cell junction;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0010633 negative regulation of epithelial cell migration;GO:0001701 in utero embryonic development;GO:0007165 signal transduction;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0006470 protein dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q15256-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXX9-1", "uniprot_id": [ { "id": "RSPO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXX9", "type": "external" } ], "mass": 28315.0, "length": 243, "protein_name": "R-spondin-2", "gene_name": "RSPO2", "organism": "Human", "refseq_name": "R-spondin-2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001269792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269792", "type": "external" } ], "gene_names_uniprotkb": "RSPO2; PRO34209", "gene_names_refseq": "CRISTIN2; HHRRD; RSPO2; TETAMS2", "protein_names_uniprotkb": "R-spondin-2; Roof plate-specific spondin-2; hRspo2", "protein_names_refseq": "R-spondin 2 homolog; R-spondin-2 isoform 2 precursor; roof plate-specific spondin-2", "tax_id": 9606, "disease": "tetraamelia syndrome 2 (Disease Ontology:DOID:0112193); humerofemoral hypoplasia with radiotibial ray deficiency (MONDO:MONDO:0060733)", "pathway": " (hsa:340419); (R-HSA-4641263)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "11237011;12975309;16109882;16357527;17400545;17804805;20495530;21160497;21693646;21727895;21909076;22575959;22615920;23847203;24715725;27314333;29769720;30942431;34407399;34573275;34847079;35027768;36215026;37217939", "class_list": "", "function": "Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (PubMed:21727895, PubMed:21909076, PubMed:22615920). During embryonic development, plays a crucial role in limb specification, amplifying the Wnt signaling pathway independently of LGR4-6 receptors, possibly by acting as a direct antagonistic ligand to RNF43 and ZNRF3, hence governing the number of limbs an embryo should form (PubMed:29769720)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren's Contracture. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a regulatory pathway inhibiting adipogenesis via RSPO2., [RefSeq, PubMed]; RSPO2 and RANKL signal through LGR4 to regulate osteoclastic premetastatic niche formation and bone metastasis., [RefSeq, PubMed]; RSPO2 inhibits BMP signaling to promote self-renewal in acute myeloid leukemia., [RefSeq, PubMed]; Suppression of Wnt/beta-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease., [RefSeq, PubMed]; There is a role for R-spondin2 in keratinocyte proliferation and epidermal thickening in keloid scarring., [RefSeq, PubMed]; This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 2, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_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": 2, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 23, "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": "B3KVP0;Q4G0U4;Q8N6X6", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008201 heparin binding;GO:0070700 BMP receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0009986 cell surface", "go_biological_process": "GO:0016055 Wnt signaling pathway;GO:0060173 limb development;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0030177 positive regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q6UXX9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100101000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19256-1", "uniprot_id": [ { "id": "LFA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P19256", "type": "external" } ], "mass": 28147.0, "length": 250, "protein_name": "Lymphocyte function-associated antigen 3", "gene_name": "CD58", "organism": "Human", "refseq_name": "lymphocyte function-associated antigen 3 isoform 2", "refseq_ac": [ { "id": "NP_001138294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138294", "type": "external" } ], "gene_names_uniprotkb": "CD58; LFA3", "gene_names_refseq": "CD58; LFA-3; LFA3; ag3", "protein_names_uniprotkb": "Lymphocyte function-associated antigen 3; Ag3; Surface glycoprotein LFA-3", "protein_names_refseq": "CD58 antigen, (lymphocyte function-associated antigen 3); lymphocyte function-associated antigen 3 isoform 2; surface glycoprotein LFA-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:965); (R-HSA-202733); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "10.1101/2023.09.13.557529;10200255;10380930;10606205;10764623;11207550;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12782713;14529530;14615387;14759258;15000751;15093607;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17566972;17580308;17600130;17615384;17625065;19279206;21193412;21659548;23090970;23481700;23650620;23945545;24043627;24190977;24366607;24715725;24764293;2538457;25418920;25576301;26154972;26375851;27452731;27846572;27920218;28228285;28467828;28813417;28832583;28871256;29242379;29317506;29393594;29508533;29557506;29632046;29632711;29691324;29741879;29786170;29789417;30315122;31217245;31844290;32157095;32161166;32350084;32357974;32502341;32897882;32938616;32983136;33043033;3309127;3313052;33592498;33717175;33912179;33936100;34357683;34932366;35051231;35154160;35251023;36010968;36215666;36241641;37074911;38176285;38253038;38635903;40596516;468991;7509040;7521878;8163559;8166770;8314844;8692836;9052782;9169774;9242610;9295288;9382878;9510189;9693095;9763524", "class_list": "", "function": "Association of CD58 rs12044852 and rs2300747 polymorphisms with the risk of multiple sclerosis: A systematic review and meta-analysis., [RefSeq, PubMed]; CD58 Alterations Govern Antitumor Immune Responses by Inducing PDL1 and IDO in Diffuse Large B-Cell Lymphoma., [RefSeq, PubMed]; Ligand of the T-lymphocyte CD2 glycoprotein. This interaction is important in mediating thymocyte interactions with thymic epithelial cells, antigen-independent and -dependent interactions of T-lymphocytes with target cells and antigen-presenting cells and the T-lymphocyte rosetting with erythrocytes. In addition, the LFA-3/CD2 interaction may prime response by both the CD2+ and LFA-3+ cells., [UniProtKB]; This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a ligand of the T lymphocyte CD2 protein, and functions in adhesion and activation of T lymphocytes. The protein is localized to the plasma membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]., [RefSeq]; Transmembrane CD58 may trigger signaling independently of the GPI-linked isoform., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K7G5;Q5U053;Q6IB65;Q96KI9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0006955 immune response;GO:0098609 cell-cell adhesion;GO:0032757 positive regulation of interleukin-8 production;GO:0071346 cellular response to type II interferon;GO:0071356 cellular response to tumor necrosis factor", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "P19256-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCN3-1", "uniprot_id": [ { "id": "PGAP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCN3", "type": "external" } ], "mass": 84761.0, "length": 771, "protein_name": "Post-GPI attachment to proteins factor 6", "gene_name": "PGAP6", "organism": "Human", "refseq_name": "post-GPI attachment to proteins factor 6 precursor", "refseq_ac": [ { "id": "NP_067082", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067082", "type": "external" } ], "gene_names_uniprotkb": "PGAP6; TMEM6; TMEM8A; TMEM8", "gene_names_refseq": "GPI-PLA2; M83; PGAP6; TMEM6; TMEM8A; TMEM8", "protein_names_uniprotkb": "Post-GPI attachment to proteins factor 6; 3.1.1.4; GPI processing phospholipase A2; GPI-PLA2; Protein M83; Transmembrane protein 6; Transmembrane protein 8A; Transmembrane protein 8", "protein_names_refseq": "GPI processing phospholipase A2; five-span transmembrane protein M83; post-GPI attachment to proteins factor 6 precursor; post-GPI attachment to proteins factor 6; post-glycosylphosphatidylinositol attachment to proteins 6; transmembrane protein 6; transmembrane protein 8 (five membrane-spanning domains); transmembrane protein 8A", "tax_id": 9606, "disease": "", "pathway": " (hsa:58986)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10.1101/2023.09.13.557529;11006113;11237011;21752829;23481700;24190977;25418920;26858401;26992070;27600516;27835684;27881714;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29741879;30459171;31154438;31217245;31844290;32157095;32350084;32816994;32983136;33091337;33298915;33912179;33968037;34087483;34171305;34433824;34561969;35051231;35251023;35580925", "class_list": "", "function": "Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchor proteins (GPI-AP). Has phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI. Required for the shedding of the GPI-AP CRIPTO, but not CFC1, at the cell surface. Shedding of CRIPTO modulates Nodal signaling by allowing soluble CRIPTO to act as a Nodal coreceptor on other cells (PubMed:27881714). Also indirectly involved in the translocation of RAC1 from the cytosol to the plasma membrane by maintaining the steady state amount of CAV1-enriched plasma membrane subdomains, stabilizing RAC1 at the plasma membrane (PubMed:27835684). In contrast to myomaker (TMEM8C), has no fusogenic activity (PubMed:26858401)., [UniProtKB, PubMed, PubMed, PubMed]; PGAP6 plays a critical role in Nodal signaling modulation through CRIPTO shedding., [RefSeq, PubMed]; PGAP6, a GPI-specific phospholipase A2, has narrow substrate specificity against GPI-anchored proteins., [RefSeq, PubMed]; TMEM8A protein localizes in lysosomes in HeLa cells, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "D3DU49;Q4TT35;Q8WU24;Q96S25;Q9BR03;Q9BT97;Q9H7B9", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0004623 phospholipase A2 activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9HCN3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15735-1", "uniprot_id": [ { "id": "PHKG2_HUMAN", "url": "https://www.uniprot.org/uniprot/P15735", "type": "external" } ], "mass": 46442.0, "length": 406, "protein_name": "Phosphorylase b kinase gamma catalytic chain, liver/testis isoform", "gene_name": "PHKG2", "organism": "Human", "refseq_name": "phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1", "refseq_ac": [ { "id": "NP_000285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000285", "type": "external" } ], "gene_names_uniprotkb": "PHKG2", "gene_names_refseq": "GSD9C; PHKG2", "protein_names_uniprotkb": "Phosphorylase b kinase gamma catalytic chain, liver/testis isoform; 2.7.11.19; PHK-gamma-LT; PHK-gamma-T; PSK-C3; Phosphorylase kinase subunit gamma-2", "protein_names_refseq": "PHK-gamma-LT; PHK-gamma-T; PSK-C3; Phosphorylase kinase, gamma 2 (testis/liver); phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1; phosphorylase kinase gamma subunit 2; phosphorylase kinase subunit gamma-2; phosphorylase kinase, gamma 2 (testis); serine/threonine-protein kinase PHKG2", "tax_id": 9606, "disease": "glycogen storage disease IXc (Disease Ontology:DOID:0111043); glycogen storage disease (Disease Ontology:DOID:2747); liver cirrhosis (Disease Ontology:DOID:5082)", "pathway": " (hsa:5261); (R-HSA-70221)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10487978;10949035;11237011;12604216;12825073;12930917;13115432;15118078;17344846;18323634;18691976;21767668;23186163;23481700;24715725;25576301;26154972;2667896;27846572;28228285;28510447;2915644;29242379;29331515;2948189;29493099;29557506;2961257;29632046;29786170;30315122;30379171;3049072;31217245;31844290;31998317;32157095;32161166;32357974;32502341;32938616;32983136;33141586;33298915;33912179;33968037;34561969;35549678;36010968;36580660;36948350;37938771;4829444;5264799;5461220;7847371;7902568;8420990;8755644;8896567;9245685;9384616;9504428;9691087", "class_list": "", "function": "Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (PubMed:35549678)., [UniProtKB, PubMed, PubMed, UniProtKB]; PHKG2 regulates RSL3-induced ferroptosis in Helicobacter pylori related gastric cancer., [RefSeq, PubMed]; Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K0C7;B4DEB7;E9PEU3;P11800", "ec_number_list": [ { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" } ], "go_molecular_function": "GO:0004689 phosphorylase kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005964 phosphorylase kinase complex;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045819 positive regulation of glycogen catabolic process;GO:0006091 generation of precursor metabolites and energy;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0005977 glycogen metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "P15735-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14667-1", "uniprot_id": [ { "id": "BLTP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14667", "type": "external" } ], "mass": 253700.0, "length": 2235, "protein_name": "Bridge-like lipid transfer protein family member 2", "gene_name": "BLTP2", "organism": "Human", "refseq_name": "bridge-like lipid transfer protein family member 2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_055495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055495", "type": "external" } ], "gene_names_uniprotkb": "BLTP2; BCOX1; KIAA0100", "gene_names_refseq": "BCOX1; BCOX; BLTP2; CT101; FMP27; Hob; KIAA0100", "protein_names_uniprotkb": "Bridge-like lipid transfer protein family member 2; Antigen MLAA-22; Breast cancer-overexpressed gene 1 protein; Protein hobbit homolog", "protein_names_refseq": "U937-associated antigen; antigen MLAA-22; breast cancer overexpressed gene 1; breast cancer-overexpressed gene 1 protein; bridge-like lipid transfer protein family member 2 isoform 1 precursor; cancer/testis antigen 101; protein hobbit homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:9703)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;15755502;16289875;18669648;21872626;22645359;23186163;23481700;23584533;24366607;24489812;24714562;24715725;25355639;26024233;26154972;26338045;26992070;27846572;27920218;28228285;28649982;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632046;29632711;30315122;30410026;31217245;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33123756;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34357683;34509645;34932366;35051231;35561310;35580925;35866672;36010968;36215666;36241641;37938771;39534244", "class_list": "", "function": "BCOX1 mRNA signal is mainly located in the cytoplasm of breast carcinoma epithelial cells. mRNA expression was moderately elevated in ductal in situ carcinoma, peaked in invasive breast carcinoma and metastatic breast carcinoma cells (MET) (BCOX1), [RefSeq, PubMed]; Circ_0000520 interacts with miR-512-5p to upregulate KIAA0100 to promote malignant behaviors in lung cancer., [RefSeq, PubMed]; High BCOX1 expression may serve as a novel marker of poor prognosis and a potential therapeutic target for patients with invasive ductal carcinomas of the breast. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of miR-195 expression and thus uncontrolled BCOX1 upregulation might drive prostate cancer metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene was initially characterized in human as having high expression levels in breast carcinomas and breast cancer cell lines. This gene also has increased expression in prostrate cancer cells relative to normal prostrate tissues. Expression of this gene is negatively regulated by direct binding of the microRNA miR-195 to its 3' UTR. miR-195 has been shown to modulate the invasiveness of prostrate cancer cells and xenograft metastases by downgrading expression of this gene. In mouse, the protein encoded by this gene was identified as an antigen on acute monocytic leukemia cells. In human, alternative splicing results in multiple transcript variants encoding distinct isoforms; some of these isoforms are predicted to contain an RNA pol II promoter FMP27 protein domain and a Golgi-body-localization APT1 domain. [provided by RefSeq, Apr 2017]., [RefSeq]; Tube-forming lipid transport protein which binds to phosphatidylinositols and affects phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) distribution., [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": 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": 2, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "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": "A6NCX3;Q3SYN5;Q49A07;Q5H9T4;Q6WG74;Q6ZP51;Q96HH8", "ec_number_list": [], "go_molecular_function": "GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane;GO:0140268 endoplasmic reticulum-plasma membrane contact site", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q14667-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16891-1", "uniprot_id": [ { "id": "MIC60_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16891", "type": "external" } ], "mass": 83678.0, "length": 758, "protein_name": "MICOS complex subunit MIC60", "gene_name": "IMMT", "organism": "Human", "refseq_name": "MICOS complex subunit MIC60 isoform 2", "refseq_ac": [ { "id": "NP_001093639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093639", "type": "external" } ], "gene_names_uniprotkb": "IMMT; HMP; MIC60; MINOS2; PIG4; PIG52", "gene_names_refseq": "HMP; IMMT; MICOS60; MINOS2; Mic60; P87/89; P87; P89; PIG4; PIG52", "protein_names_uniprotkb": "MICOS complex subunit MIC60; Cell proliferation-inducing gene 4/52 protein; Mitochondrial inner membrane protein; Mitofilin; p87/89", "protein_names_refseq": "MICOS complex subunit MIC60 isoform 2; MICOS complex subunit MIC60; cell proliferation-inducing gene 4/52 protein; cell proliferation-inducing protein 52; heart muscle protein; mitochondrial contact site and cristae organizing system subunit 60; mitochondrial inner membrane organizing system 2; mitochondrial inner membrane protein; mitofilin; motor protein; proliferation-inducing gene 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:10989); (R-HSA-8949613)", "pathway_count": 2, "publication_count": 136, "publication_id_list": "11237011;12469345;14654843;17121862;17510655;17624330;18323778;19608861;20068231;20833715;20934997;21081504;21836051;22114354;22228767;22252321;22864911;22869377;23186163;23481700;24098383;24275569;24366607;24687277;24714562;24715725;25285856;25418920;25505266;25576301;25645385;25764979;25781180;25810538;25880248;25892735;25997101;26154972;26375851;26416881;26477565;26530328;26728094;26811146;26968360;26992070;27397612;27452731;27479602;27485409;27543614;27600516;27623147;27846572;27920218;28063628;28218747;28228285;28446606;28510447;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29605689;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31222486;31530632;31644573;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32567732;32897882;32938616;32983136;33087821;33123756;33130824;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34271005;34357683;34433824;34561969;34842280;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36127429;36241641;36284347;37938771;38665916;38834715;40914422;8039717;9168817", "class_list": "", "function": "Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Conserved GxxxG and WN motifs of MIC13 are essential for bridging two MICOS subcomplexes., [RefSeq, PubMed]; Data show that the nuclear matrix protein matrin 3, cytoskeletal motor protein HMP, and the circadian clock protein lark were significantly decreased in fetal Down syndrome brain., [RefSeq, PubMed]; Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene., [RefSeq, PubMed]; Suppressing mitochondrial inner membrane protein (IMMT) inhibits the proliferation of breast cancer cells through mitochondrial remodeling and metabolic regulation. Erratum:[Sci Rep. 2024 Oct 25;14(1):25389. doi: 10.1038/s41598-024-74030-2. PMID: 39455609] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B1H0U5;B2R5N6;Q14539;Q15092;Q68D41;Q69HW5;Q6IBL0;Q7Z3X1;Q8TAJ5;Q9P0V2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0001401 SAM complex;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0016020 membrane", "go_biological_process": "GO:0042407 cristae formation;GO:0007007 inner mitochondrial membrane organization", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "Q16891-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZT89-1", "uniprot_id": [ { "id": "S2548_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZT89", "type": "external" } ], "mass": 33440.0, "length": 311, "protein_name": "Solute carrier family 25 member 48", "gene_name": "SLC25A48", "organism": "Human", "refseq_name": "solute carrier family 25 member 48 isoform 2", "refseq_ac": [ { "id": "NP_660325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660325", "type": "external" } ], "gene_names_uniprotkb": "SLC25A48", "gene_names_refseq": "SLC25A48", "protein_names_uniprotkb": "Solute carrier family 25 member 48", "protein_names_refseq": "CTC-321K16.1; solute carrier family 25 member 48 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:153328)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;19773279;20877624;23266187;25576301;29557506;33392160;33981976;35051231;36241641;38977856;39047301;39084256;39111307", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import., [RefSeq, PubMed]; Mitochondrial transporter that mediates choline import across the inner mitochondrial membrane, thereby regulating mitochondrial choline levels and downstream metabolism, including betaine and purine nucleotide synthesis (PubMed:39111307, PubMed:38977856, PubMed:39084256). Plays a key role in mitochondrial respiration, brown fat thermogenesis, and the maintenance of mitochondrial membrane integrity (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Mitochondrial transporter that transports choline across the inner mitochondrial membrane., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; SLC25A48 controls mitochondrial choline import and metabolism., [RefSeq, PubMed]; SLC25A48 influences plasma levels of choline and localizes to the inner mitochondrial membrane., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "Q8TAV9", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015220 choline transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0015871 choline transport;GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q6ZT89-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75582-1", "uniprot_id": [ { "id": "KS6A5_HUMAN", "url": "https://www.uniprot.org/uniprot/O75582", "type": "external" } ], "mass": 89865.0, "length": 802, "protein_name": "Ribosomal protein S6 kinase alpha-5", "gene_name": "RPS6KA5", "organism": "Human", "refseq_name": "ribosomal protein S6 kinase alpha-5 isoform k", "refseq_ac": [ { "id": "NP_001309164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309164", "type": "external" } ], "gene_names_uniprotkb": "RPS6KA5; MSK1", "gene_names_refseq": "MSK1; MSPK1; RLPK; RPS6KA5", "protein_names_uniprotkb": "Ribosomal protein S6 kinase alpha-5; 2.7.11.1; 90 kDa ribosomal protein S6 kinase 5; Nuclear mitogen- and stress-activated protein kinase 1; RSK-like protein kinase; RSKL; S6K-alpha-5", "protein_names_refseq": "90 kDa ribosomal protein S6 kinase 5; RSK-like protein kinase; RSKL; S6K-alpha-5; nuclear mitogen- and stress-activated protein kinase 1; ribosomal protein S6 kinase alpha-5 isoform k; ribosomal protein S6 kinase alpha-5; ribosomal protein S6 kinase, 90kDa, polypeptide 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:9252); (R-HSA-198753); (R-HSA-199920); (R-HSA-375165); (R-HSA-437239); (R-HSA-5621575)", "pathway_count": 6, "publication_count": 112, "publication_id_list": "10608864;10702687;10721994;10747093;10804209;10818153;11017109;11237011;11909979;11940578;11994045;12082080;12414794;12456660;12515809;12569367;12628924;12700044;12763138;12773393;12942088;14578350;15010469;15274926;15520807;15568999;15635602;16135789;16330023;16434485;16456541;16543895;17117922;17344846;17429437;17462920;18267068;18385332;18478542;18508628;18511904;19122653;19197368;19278660;19464896;19651622;19690332;20044958;20068231;20363321;20382163;20596523;22312446;23301498;24027420;2448316;25576301;25645385;25851810;25958199;26030901;26305102;26375851;27385346;2809592;28904123;29351928;29493099;29557506;30305627;30429286;30779550;30833945;31154438;31844290;31848261;32157095;32161166;32387766;32488085;32938616;32983136;33298915;33392160;33563994;33912179;33968037;33981976;34171305;34185709;34445361;34509645;35051231;35580925;36010968;36215666;36241641;36284347;36812480;38385994;40914422;7493978;7517401;7551568;7997267;8493579;9651214;9660950;9687510;9721721;9770464;9873047", "class_list": "", "function": "Associations of MSK1 Methylation and Executive Function With Suicidal Ideation in Adolescents With Major Depressive Disorder: A Prospective Cohort Study. Publication Status: Online-Only, [RefSeq, PubMed]; Mitogen and Stress-Activated Kinases 1 and 2 Mediate Endothelial Dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; Mitogen- and stress-activated protein kinase (MSK1/2) regulated gene expression in normal and disease states. Review article, [RefSeq, PubMed]; Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factors RELA, STAT3 and ETV1/ER81, and that contributes to gene activation by histone phosphorylation and functions in the regulation of inflammatory genes (PubMed:11909979, PubMed:12569367, PubMed:12763138, PubMed:18511904, PubMed:9687510, PubMed:9873047). Phosphorylates CREB1 and ATF1 in response to mitogenic or stress stimuli such as UV-C irradiation, epidermal growth factor (EGF) and anisomycin (PubMed:11909979, PubMed:9873047). Plays an essential role in the control of RELA transcriptional activity in response to TNF and upon glucocorticoid, associates in the cytoplasm with the glucocorticoid receptor NR3C1 and contributes to RELA inhibition and repression of inflammatory gene expression (PubMed:12628924, PubMed:18511904). In skeletal myoblasts is required for phosphorylation of RELA at 'Ser-276' during oxidative stress (PubMed:12628924). In erythropoietin-stimulated cells, is necessary for the 'Ser-727' phosphorylation of STAT3 and regulation of its transcriptional potential (PubMed:12763138). Phosphorylates ETV1/ER81 at 'Ser-191' and 'Ser-216', and thereby regulates its ability to stimulate transcription, which may be important during development and breast tumor formation (PubMed:12569367). Directly represses transcription via phosphorylation of 'Ser-1' of histone H2A (PubMed:15010469). Phosphorylates 'Ser-10' of histone H3 in response to mitogenics, stress stimuli and EGF, which results in the transcriptional activation of several immediate early genes, including proto-oncogenes c-fos/FOS and c-jun/JUN (PubMed:12773393). May also phosphorylate 'Ser-28' of histone H3 (PubMed:12773393). Mediates the mitogen- and stress-induced phosphorylation of high mobility group protein 1 (HMGN1/HMG14) (PubMed:12773393). In lipopolysaccharide-stimulated primary macrophages, acts downstream of the Toll-like receptor TLR4 to limit the production of pro-inflammatory cytokines (By similarity). Functions probably by inducing transcription of the MAP kinase phosphatase DUSP1 and the anti-inflammatory cytokine interleukin 10 (IL10), via CREB1 and ATF1 transcription factors (By similarity). Plays a role in neuronal cell death by mediating the downstream effects of excitotoxic injury (By similarity). Phosphorylates TRIM7 at 'Ser-107' in response to growth factor signaling via the MEK/ERK pathway, thereby stimulating its ubiquitin ligase activity (PubMed:25851810)., [UniProtKB, PubMed, PubMed, PubMed, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 40, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z2Y5;O95316;Q96AF7", "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:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0035175 histone H3S10 kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0070498 interleukin-1-mediated signaling pathway;GO:0006468 protein phosphorylation;GO:0006954 inflammatory response;GO:0035556 intracellular signal transduction;GO:0043687 post-translational protein modification", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "O75582-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P1M3-1", "uniprot_id": [ { "id": "L2GL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P1M3", "type": "external" } ], "mass": 113448.0, "length": 1020, "protein_name": "LLGL scribble cell polarity complex component 2", "gene_name": "LLGL2", "organism": "Human", "refseq_name": "LLGL scribble cell polarity complex component 2 isoform b", "refseq_ac": [ { "id": "NP_001015002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015002", "type": "external" } ], "gene_names_uniprotkb": "LLGL2", "gene_names_refseq": "HGL; Hugl-2; LGL2; LLGL2", "protein_names_uniprotkb": "LLGL scribble cell polarity complex component 2; HGL; Lethal(2) giant larvae protein homolog 2", "protein_names_refseq": "LLGL scribble cell polarity complex component 2 isoform b; LLGL2, scribble cell polarity complex component; human giant larvae homolog; lethal giant larvae homolog 2, scribble cell polarity complex component; lethal(2) giant larvae protein homolog 2", "tax_id": 9606, "disease": "brain cancer (Disease Ontology:DOID:1319); cancer (Disease Ontology:DOID:162); kidney cancer (Disease Ontology:DOID:263); carcinoma (Disease Ontology:DOID:305); neuroblastoma (Disease Ontology:DOID:769)", "pathway": " (hsa:3993)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11237011;12725730;15632202;18155665;18199550;18452278;18669648;19403135;20644714;23186163;23481700;25576301;25645385;26154972;26811146;26992070;27397612;27862975;28114269;28218747;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29786170;29789417;30315122;30429286;30779550;30833945;31088962;31088964;31154438;31222486;31844290;31848261;32157095;32357974;32385218;32387766;32897882;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33912179;33968037;33981976;34087483;34171305;34185709;34509645;35051231;35318648;35513511;35561310;35580925;36010968;36192404;36215666;36284347;38720397;39302247", "class_list": "", "function": "A human cell polarity protein Lgl2 regulates influenza A virus nucleoprotein exportation from nucleus in MDCK cells., [RefSeq, PubMed]; Binding between Lgl2 and LGN play a role in mitotic spindle organization through regulating formation of the LGN.NuMA complex; Lgl2 forms a Lgl2.Par-6.aPKC.LGN complex, which responds to mitotic signaling to establish normal cell division, [RefSeq, PubMed]; Co-expression effect of LLGL2 and SLC7A5 to predict prognosis in ERalpha-positive breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Novel role of LLGL2 silencing in autophagy: reversing epithelial-mesenchymal transition in prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6, which may ensure the correct organization and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of the establishment of epithelial cell polarity., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Retention of Lgl2 expression is critical for the epithelial phenotype;its loss might be involved in metastasis., [RefSeq, PubMed]; Study and determination of the crystal structure of lethal giant larvae homolog 2 (Lgl2)., [RefSeq, PubMed]; The crystal structures of human lethal giant larvae homolog 2 (Lgl2) in both its unphosphorylated and atypical protein kinase C(aPKC) phosphorylated states are presented and investigated in this article., [RefSeq, PubMed]; The identification and functional characterization of the promoter region ( approximately 1.2kb) of the Hugl-2 gene are reported., [RefSeq, PubMed]; The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 36, "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": "Q14521;Q9BR62", "ec_number_list": [], "go_molecular_function": "GO:0045159 myosin II binding;GO:0005096 GTPase activator activity;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0030864 cortical actin cytoskeleton", "go_biological_process": "GO:0051294 establishment of spindle orientation;GO:0032878 regulation of establishment or maintenance of cell polarity;GO:0015820 L-leucine transport;GO:0051301 cell division;GO:0030866 cortical actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q6P1M3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NSJ5-1", "uniprot_id": [ { "id": "LRC8E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NSJ5", "type": "external" } ], "mass": 90247.0, "length": 796, "protein_name": "Volume-regulated anion channel subunit LRRC8E", "gene_name": "LRRC8E", "organism": "Human", "refseq_name": "volume-regulated anion channel subunit LRRC8E isoform 1", "refseq_ac": [ { "id": "NP_001255213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001255213", "type": "external" } ], "gene_names_uniprotkb": "LRRC8E", "gene_names_refseq": "LRRC8E", "protein_names_uniprotkb": "Volume-regulated anion channel subunit LRRC8E; Leucine-rich repeat-containing protein 8E", "protein_names_refseq": "leucine rich repeat containing 8 family member E; leucine-rich repeat-containing protein 8E; volume-regulated anion channel subunit LRRC8E isoform 1; volume-regulated anion channel subunit LRRC8E", "tax_id": 9606, "disease": "", "pathway": " (hsa:80131); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10.1101/2023.09.13.557529;10571941;11237011;11326272;11326338;11401429;12297987;12297989;12951058;13130483;14984739;15094057;15804357;17166836;18057121;18347014;1840603;18930737;19262752;1955075;19717468;22119785;22532330;22649030;23169667;24725410;24790029;25576301;25645385;26620797;26635246;26824658;27102039;28193731;28832583;29557506;29786170;29789417;30779550;31154438;31844290;32157095;32161166;32350084;32387766;32938616;33139539;33171122;33298915;33592498;33912179;33968037;33981976;34171305;34185709;34405274;35051231;35251023;35580925;36010968;36241641;4018271;7615546;7619062;7749638;9114041;9537412", "class_list": "", "function": "Identified four genes, named TA-LRRP, AD158, LRRC5, and FLJ23420, as unknown LRRC8-like genes, [RefSeq, PubMed]; Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24790029, PubMed:26824658). Mediates efflux of amino acids, such as aspartate, in response to osmotic stress (PubMed:28193731). The VRAC channel also mediates transport of immunoreactive cyclic dinucleotide GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol (PubMed:33171122). Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731). Also plays a role in lysosome homeostasis by forming functional lysosomal VRAC channels in response to low cytoplasmic ionic strength condition: lysosomal VRAC channels are necessary for the formation of large lysosome-derived vacuoles, which store and then expel excess water to maintain cytosolic water homeostasis (PubMed:33139539)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KR78;Q2YDY3;Q7L236;Q8N3B0;Q9H5H8", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0005225 volume-sensitive anion channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0098656 monoatomic anion transmembrane transport;GO:0006884 cell volume homeostasis;GO:0071470 cellular response to osmotic stress;GO:0015810 aspartate transmembrane transport;GO:0140361 cyclic-GMP-AMP transmembrane import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q6NSJ5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTT6-1", "uniprot_id": [ { "id": "LRRC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTT6", "type": "external" } ], "mass": 59242.0, "length": 524, "protein_name": "Leucine-rich repeat-containing protein 1", "gene_name": "LRRC1", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 1", "refseq_ac": [ { "id": "NP_060684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060684", "type": "external" } ], "gene_names_uniprotkb": "LRRC1; LANO", "gene_names_refseq": "LANO; LRRC1; dJ523E19.1", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 1; LANO adapter protein; LAP and no PDZ protein", "protein_names_refseq": "LANO adapter protein; LAP (leucine-rich repeats and PDZ) and no PDZ protein; LAP and no PDZ protein; leucine-rich repeat-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55227); (R-HSA-9696270)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10664463;11237011;11440998;11940653;12200217;12244061;12842009;14732713;15738000;16481321;18996843;19136556;20811643;23186163;23645086;24690281;24715725;25418920;25645385;25888806;25892735;26969432;26992070;27600516;28218747;28228285;28904123;29242379;29393594;29437277;29485866;29557506;29789417;30315122;30344009;30379171;30484775;30524438;30779550;31092671;31154438;31513346;31844290;31848261;31871319;32157095;32265295;32357974;32387766;32488085;32938616;32978367;33298915;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34357683;34509645;35051231;35580925;36010968;36241641;36284347;36370237;37217939;37938771;38165568;38473980", "class_list": "", "function": "Bone marrow mesenchymal stem cells-derived exosomal microRNA-193a reduces cisplatin resistance of non-small cell lung cancer cells via targeting LRRC1. Publication Status: Online-Only, [RefSeq, PubMed]; Common and specific sets of proteins associated to SCRIB and LANO by MS are identified and an extensive landscape of their associated networks and the first comparative analysis of their respective interactomes are provided, [RefSeq, PubMed]; LRRC1 contributes to HCC development, and may be a potential target for therapeutic intervention in this disease., [RefSeq, PubMed]; LRRC1 knockdown downregulates MACF1 to inhibit the malignant progression of acute myeloid leukemia by inactivating beta-catenin/c-Myc signaling., [RefSeq, PubMed]; Lano/LRRC1-depleted cells secrete increased levels of WNT ligands., [RefSeq, PubMed]; The Upregulation of Leucine-Rich Repeat Containing 1 Expression Activates Hepatic Stellate Cells and Promotes Liver Fibrosis by Stabilizing Phosphorylated Smad2/3. Publication Status: Online-Only, [RefSeq, PubMed]; The downstream PPARgamma target LRRC1 participates in early stage adipocytic differentiation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5TGN3;Q9HAC0;Q9NVF1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9BTT6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14721-1", "uniprot_id": [ { "id": "KCNB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14721", "type": "external" } ], "mass": 95878.0, "length": 858, "protein_name": "Potassium voltage-gated channel subfamily B member 1", "gene_name": "KCNB1", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily B member 1", "refseq_ac": [ { "id": "NP_004966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004966", "type": "external" } ], "gene_names_uniprotkb": "KCNB1", "gene_names_refseq": "DEE26; DRK1; KCNB1; Kv2.1", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily B member 1; DRK1; Delayed rectifier potassium channel 1; Voltage-gated potassium channel subunit Kv2.1; h-DRK1", "protein_names_refseq": "delayed rectifier potassium channel 1; potassium voltage-gated channel subfamily B member 1; potassium voltage-gated channel, Shab-related subfamily, member 1; voltage-gated potassium channel subunit Kv2.1", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 26 (Disease Ontology:DOID:0080461); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:3745); (R-HSA-1296072); (R-HSA-381676)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10318832;10414301;10484328;11071853;11237011;11852086;12034449;12060745;12180908;12401793;12403834;12410638;12475787;12496249;12560340;12615930;1283219;12938160;13680124;14565763;14988243;15569269;15858231;15955806;15995848;16613879;16973695;17095603;17306374;17360683;17444618;17900700;18202100;18287102;18412318;18577758;19074135;19223394;19357235;19622611;19717558;19859570;19861722;20393197;21231794;21712386;23161216;23223293;23857585;24477962;24901643;25164438;26308095;26477325;26503721;26960196;28657654;28806457;29264397;32488085;32983136;33124732;33333928;33968037;34535971;35231557;37758949;39201645;39469306;7589461;8081723;8138058;8404634;8405712;8830891;9417641;9488697;9920805", "class_list": "", "function": "Cleavage of Kv2.1 by BACE1 decreases potassium current and reduces neuronal apoptosis., [RefSeq, PubMed]; Inactivation of the Kv2.1 channel through electromechanical coupling., [RefSeq, PubMed]; KCNG4 Genetic Variant Linked to Migraine Prevents Expression of KCNB1. Publication Status: Online-Only, [RefSeq, PubMed]; Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]., [RefSeq]; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in the pancreas and cardiovascular system. Contributes to the regulation of the action potential (AP) repolarization, duration and frequency of repetitive AP firing in neurons, muscle cells and endocrine cells and plays a role in homeostatic attenuation of electrical excitability throughout the brain (PubMed:23161216). Plays also a role in the regulation of exocytosis independently of its electrical function (By similarity). Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization (PubMed:10484328, PubMed:12560340, PubMed:1283219, PubMed:19074135, PubMed:19717558, PubMed:24901643, PubMed:8081723). Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB2; channel properties depend on the type of alpha subunits that are part of the channel (By similarity). Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNF1, KCNG1, KCNG3, KCNG4, KCNH1, KCNH2, KCNS1, KCNS2, KCNS3 and KCNV1, creating a functionally diverse range of channel complexes (PubMed:10484328, PubMed:11852086, PubMed:12060745, PubMed:19074135, PubMed:19717558, PubMed:24901643). Heterotetrameric channel activity formed with KCNS3 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells (By similarity). Channel properties are also modulated by cytoplasmic ancillary beta subunits such as AMIGO1, KCNE1, KCNE2 and KCNE3, slowing activation and inactivation rate of the delayed rectifier potassium channels (By similarity). In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Major contributor to the slowly inactivating delayed-rectifier voltage-gated potassium current in neurons of the central nervous system, sympathetic ganglion neurons, neuroendocrine cells, pancreatic beta cells, cardiomyocytes and smooth muscle cells. Mediates the major part of the somatodendritic delayed-rectifier potassium current in hippocampal and cortical pyramidal neurons and sympathetic superior cervical ganglion (CGC) neurons that acts to slow down periods of firing, especially during high frequency stimulation. Plays a role in the induction of long-term potentiation (LTP) of neuron excitability in the CA3 layer of the hippocampus (By similarity). Contributes to the regulation of glucose-induced action potential amplitude and duration in pancreatic beta cells, hence limiting calcium influx and insulin secretion (PubMed:23161216). Plays a role in the regulation of resting membrane potential and contraction in hypoxia-treated pulmonary artery smooth muscle cells. May contribute to the regulation of the duration of both the action potential of cardiomyocytes and the heart ventricular repolarization QT interval. Contributes to the pronounced pro-apoptotic potassium current surge during neuronal apoptotic cell death in response to oxidative injury. May confer neuroprotection in response to hypoxia/ischemic insults by suppressing pyramidal neurons hyperexcitability in hippocampal and cortical regions (By similarity). Promotes trafficking of KCNG3, KCNH1 and KCNH2 to the cell surface membrane, presumably by forming heterotetrameric channels with these subunits (PubMed:12060745). Plays a role in the calcium-dependent recruitment and release of fusion-competent vesicles from the soma of neurons, neuroendocrine and glucose-induced pancreatic beta cells by binding key components of the fusion machinery in a pore-independent manner (By similarity)., [UniProtKB, PubMed, UniProtKB, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q14193", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0015271 outward rectifier potassium channel activity;GO:0046982 protein heterodimerization activity;GO:0015459 potassium channel regulator activity;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030424 axon;GO:0030425 dendrite;GO:0043204 perikaryon", "go_biological_process": "GO:0010701 positive regulation of norepinephrine secretion;GO:0098900 regulation of action potential;GO:2000671 regulation of motor neuron apoptotic process;GO:0051260 protein homooligomerization;GO:0071333 cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q14721-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TF39-1", "uniprot_id": [ { "id": "S60A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TF39", "type": "external" } ], "mass": 56218.0, "length": 518, "protein_name": "Solute carrier family 60 member 2", "gene_name": "SLC60A2", "organism": "Human", "refseq_name": "solute carrier family 60 member 1", "refseq_ac": [ { "id": "NP_699200", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699200", "type": "external" } ], "gene_names_uniprotkb": "SLC60A2; HSPC100; KIAA1919; MFSD4B; NAGLT1", "gene_names_refseq": "KIAA1919; MFSD4B; NaGLT1; SLC60A2", "protein_names_uniprotkb": "Solute carrier family 60 member 2; Major facilitator superfamily domain-containing protein 4B; Sodium-dependent glucose transporter 1", "protein_names_refseq": "major facilitator superfamily domain containing 4B; major facilitator superfamily domain-containing protein 4B; sodium-dependent glucose transporter 1; solute carrier family 60 member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:91749); (R-HSA-189200)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10821868;10860667;10970791;10987651;11133510;11237011;11245466;11247674;11425315;11583593;11681785;11741323;11780755;11832379;11994746;12504846;12590146;12885248;1415574;14614622;14739288;14997204;15033637;15607332;15902306;16154905;16550171;17050778;1756912;17635959;18063724;18327257;1918382;20616166;21107422;21940664;22212718;22424782;22521588;25892735;2656669;26650681;28218747;28904123;29437277;29557506;29769354;31844290;32350084;32387766;32938616;33141586;33298915;33392160;33912179;33936100;33968037;34211107;34357683;34509645;35051231;36215666;8457197;9354798;9751501", "class_list": "", "function": "Low-affinity Na(+)-dependent glucose symporter with a Na(+) to glucose coupling ratio of 1:1. Potential channels for urea in the inner medulla of kidney., [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": 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": "A8K9M0;Q8IYB6;Q96PW9;Q9P0D6", "ec_number_list": [], "go_molecular_function": "GO:0005412 D-glucose:sodium symporter activity", "go_cellular_component": "GO:0031526 brush border membrane;GO:0016020 membrane", "go_biological_process": "GO:0098708 D-glucose import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q5TF39-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02078-1", "uniprot_id": [ { "id": "MEF2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02078", "type": "external" } ], "mass": 54811.0, "length": 507, "protein_name": "Myocyte-specific enhancer factor 2A", "gene_name": "MEF2A", "organism": "Human", "refseq_name": "myocyte-specific enhancer factor 2A isoform 3", "refseq_ac": [ { "id": "NP_001124399", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124399", "type": "external" } ], "gene_names_uniprotkb": "MEF2A; MEF2", "gene_names_refseq": "ADCAD1; MEF2A; RSRFC4; RSRFC9; mef2", "protein_names_uniprotkb": "Myocyte-specific enhancer factor 2A; Serum response factor-like protein 1", "protein_names_refseq": "MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A); myocyte-specific enhancer factor 2A isoform 3; myocyte-specific enhancer factor 2A; serum response factor-like protein 1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); intellectual disability (Disease Ontology:DOID:1059); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); dilated cardiomyopathy (Disease Ontology:DOID:12930); coronary artery disease (Disease Ontology:DOID:3393)", "pathway": " (hsa:4205); (R-HSA-198753); (R-HSA-525793)", "pathway_count": 3, "publication_count": 101, "publication_id_list": "10.1101/2023.09.13.557529;10330143;10487761;10601328;10715212;10805738;10835359;10849446;11237011;11782431;11904443;12586839;12634428;12691662;14630949;1516833;15496429;15735306;15834131;15888658;15958500;16371476;16456541;16484498;16563226;1748287;17785444;18086930;18669648;18697823;19564926;19608861;20160094;21468593;23186163;24714562;25645385;26154972;26992070;27600516;27846572;28063628;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29508533;29557506;29632046;29632711;29786170;30059200;30429286;30524438;31154438;31373491;31492838;31844290;31848261;31998317;32157095;32357974;32387766;32502341;32870666;32897882;32938750;33214551;33298915;33392160;33592498;33968037;34019948;34561969;34846842;35051231;35254053;35289036;35513511;35580925;36010968;36284347;37541260;37772772;38281192;38372109;38665916;39121977;39329212;40307207;40596516;9069290;9418854;9687510;9753748;9786951;9858528;9988769", "class_list": "", "function": "A Study of transcription factor MEF2A gene polymorphisms in patients with coronary artery disease. Publication Status: Online-Only, [RefSeq, PubMed]; Direct regulation of FNIP1 and FNIP2 by MEF2 sustains MTORC1 activation and tumor progression in pancreatic cancer., [RefSeq, PubMed]; MEF2A is a transcription factor for circPVT1 and contributes to the malignancy of acute myeloid leukemia., [RefSeq, PubMed]; Structural insights into the HDAC4-MEF2A-DNA complex and its implication in long-range transcriptional regulation., [RefSeq, PubMed]; The MEF2A/SNHG16/miR-425-5p/NOTCH2 axis induces gemcitabine resistance by inhibiting ferroptosis in the starving bladder tumor microenvironment., [RefSeq, PubMed]; The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]., [RefSeq]; Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons, phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation. Associates with chromatin to the ZNF16 promoter., [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": 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": 21, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 13, "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": "B4DFQ7;F6XG23;O43814;Q14223;Q14224;Q59GX4;Q7Z6C9;Q96D14", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0019901 protein kinase binding;GO:0046982 protein heterodimerization 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:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007507 heart development;GO:0010628 positive regulation of gene expression;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "Q02078-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HQ0-1", "uniprot_id": [ { "id": "ZN419_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HQ0", "type": "external" } ], "mass": 58564.0, "length": 510, "protein_name": "Zinc finger protein 419", "gene_name": "ZNF419", "organism": "Human", "refseq_name": "zinc finger protein 419 isoform 1", "refseq_ac": [ { "id": "NP_001091961", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091961", "type": "external" } ], "gene_names_uniprotkb": "ZNF419; ZNF419A", "gene_names_refseq": "ZAPHIR; ZNF419A; ZNF419", "protein_names_uniprotkb": "Zinc finger protein 419", "protein_names_refseq": "zinc finger protein 419 isoform 1; zinc finger protein 419A", "tax_id": 9606, "disease": "", "pathway": " (hsa:79744); (R-HSA-212436)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;25892735;26992070;27826023;29493099;29632711;30315122;31844290;32157095;32938616;33968037;35051231;35580925;36284347;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Previously unreported alternative splicing patterns in the genes ZNF419 and DKKL1, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B4DXU7;B4E348;B7ZA41;E9PCP4;E9PED0;E9PET3;E9PFX9;Q9H5P0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q96HQ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8ND56-1", "uniprot_id": [ { "id": "LS14A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8ND56", "type": "external" } ], "mass": 50530.0, "length": 463, "protein_name": "Protein LSM14 homolog A", "gene_name": "LSM14A", "organism": "Human", "refseq_name": "protein LSM14 homolog A isoform a", "refseq_ac": [ { "id": "NP_001107565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107565", "type": "external" } ], "gene_names_uniprotkb": "LSM14A; C19orf13; FAM61A; RAP55A; RAP55", "gene_names_refseq": "C19orf13; FAM61A; LSM14A; RAP55A; RAP55", "protein_names_uniprotkb": "Protein LSM14 homolog A; AlphaSNBP; Protein FAM61A; Protein SCD6 homolog; Putative alpha-synuclein-binding protein; RNA-associated protein 55A; hRAP55A; hRAP55", "protein_names_refseq": "LSM14A, SCD6 homolog A; RNA-associated protein 55A; RNA-associated protein 55; alphaSNBP; family with sequence similarity 61, member A; hRAP55A; hRAP55; protein LSM14 homolog A isoform a; protein LSM14 homolog A; protein SCD6 homolog; putative alpha-synuclein-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:26065)", "pathway_count": 1, "publication_count": 83, "publication_id_list": "11237011;16484376;17074753;17081983;17525332;18088087;18669648;18691976;18723115;19367720;19369195;20068231;21406692;22223895;22614839;23186163;23301498;23481700;24275569;25418920;25576301;26027925;26339800;26811146;26992070;28228285;28510447;28514659;28649982;28832583;28855257;28904123;29242379;29351928;29493099;29510985;29557506;29632046;29632711;29786170;30315122;30410026;30833945;31154438;31217245;31373491;31422817;31439631;31530632;31844290;31848261;31998317;32119511;32157095;32350084;32354837;32387766;32502341;32897882;32938616;32983136;33141586;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34244294;34561969;34725712;35051231;35138101;35251023;35318648;35580925;36010968;38665916;39534244;40596516", "class_list": "", "function": "Essential for formation of P-bodies, cytoplasmic structures that provide storage sites for translationally inactive mRNAs and protect them from degradation (PubMed:16484376, PubMed:17074753, PubMed:29510985). Acts as a repressor of mRNA translation (PubMed:29510985). May play a role in mitotic spindle assembly (PubMed:26339800)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Nonstructural Protein NSs Hampers Cellular Antiviral Response through LSm14A during Severe Fever with Thrombocytopenia Syndrome Virus Infection., [RefSeq, PubMed]; RAP55 is important for the assembly of cytoplasmic mRNP granules and that PRMT1 is required for RAP55A to localize to P-bodies., [RefSeq, PubMed]; Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008]., [RefSeq]; This protein family has evolved a common and fundamental role in the control of mRNA translation. Human RAP55A is an autoantigen detected in the serum of patients with primary biliary cirrhosis (PBC). 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": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 6, "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": "B4DTG6;Q76LX7;Q96AR3;Q96K73;Q96SN5;Q9UFR3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;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:0000932 P-body;GO:0036464 cytoplasmic ribonucleoprotein granule;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0090307 mitotic spindle assembly;GO:0017148 negative regulation of translation;GO:0033962 P-body assembly;GO:0034063 stress granule assembly", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q8ND56-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6TFL4-1", "uniprot_id": [ { "id": "KLH24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6TFL4", "type": "external" } ], "mass": 68361.0, "length": 600, "protein_name": "Kelch-like protein 24", "gene_name": "KLHL24", "organism": "Human", "refseq_name": "kelch-like protein 24 isoform b", "refseq_ac": [ { "id": "NP_060114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060114", "type": "external" } ], "gene_names_uniprotkb": "KLHL24; DRE1", "gene_names_refseq": "CMH29; DRE1; EBS6; EBSSH; KLHL24; KRIP6", "protein_names_uniprotkb": "Kelch-like protein 24; KRIP6; Kainate receptor-interacting protein for GluR6; Protein DRE1", "protein_names_refseq": "kainate receptor interacting protein for GluR6; kelch-like 24; kelch-like protein 24 isoform b; kelch-like protein 24", "tax_id": 9606, "disease": "familial hypertrophic cardiomyopathy (Disease Ontology:DOID:0080326); epidermolysis bullosa simplex (Disease Ontology:DOID:4644); epidermolysis bullosa simplex 6, generalized, with scarring and hair loss (MONDO:MONDO:0015006); cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies (MONDO:MONDO:0859372)", "pathway": " (hsa:54800)", "pathway_count": 1, "publication_count": 94, "publication_id_list": "11237011;17074750;18692513;22424782;22544926;23481700;23512275;24715725;24958902;25576301;25645385;25892735;26154972;26375851;26992070;27397612;27543614;27600516;27798626;27846572;27862975;27889062;27920218;28063628;28218747;28228285;28411811;28514659;28832583;28834231;28860189;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30484775;30524438;30715372;30779550;30833945;31154438;31217245;31222486;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34509645;34740256;35031308;35051231;35318648;35561310;35580925;35975634;36010968;36215666;36241641;36284347;37938771;38474236", "class_list": "", "function": "A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation., [RefSeq, PubMed]; Data show that a miRNA, hsv1-mir-H27, encoded within the genome of herpes simplex virus 1 (HSV-1), targets the mRNA of the cellular transcriptional repressor Kelch-like 24 (KLHL24)., [RefSeq, PubMed]; EBS in Children with De Novo Pathogenic Variants Disturbing Krt14. Publication Status: Online-Only, [RefSeq, PubMed]; KRIP6 regulates kainate receptors by inhibiting PICK1 modulation via competition or a mutual blocking effect, [RefSeq, PubMed]; Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants., [RefSeq, PubMed]; Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity (PubMed:27889062). As part of the BCR(KLHL24) E3 ubiquitin ligase complex, mediates ubiquitination of KRT14 and controls its levels during keratinocytes differentiation (PubMed:27798626). Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties (By similarity). Has a crucial role in cardiac development and function (PubMed:30715372)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy., [RefSeq, PubMed]; The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 11, "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": "A5PLN8;Q9H620;Q9NXT9", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005912 adherens junction;GO:0030424 axon;GO:0043204 perikaryon;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0045109 intermediate filament organization;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q6TFL4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y546-1", "uniprot_id": [ { "id": "LRC42_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y546", "type": "external" } ], "mass": 48571.0, "length": 428, "protein_name": "Leucine-rich repeat-containing protein 42", "gene_name": "LRRC42", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 42", "refseq_ac": [ { "id": "NP_001243338", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243338", "type": "external" } ], "gene_names_uniprotkb": "LRRC42", "gene_names_refseq": "LRRC42; dJ167A19.4", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 42", "protein_names_refseq": "leucine-rich repeat-containing protein 42", "tax_id": 9606, "disease": "", "pathway": " (hsa:115353)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "11237011;16303743;17525332;23481700;24366607;24397554;24714562;24715725;24806090;25576301;25645385;25880248;26154972;26375851;26728094;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29093164;29242379;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30524438;30779550;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34509645;34932366;35051231;35561310;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "Findings suggest that LRRC42 overexpression as well as its interaction with LRRC42-GATAD2B might play essential roles in lung carcinogenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "D3DQ46;Q8N2Q8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9Y546-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6PVS8-1", "uniprot_id": [ { "id": "LRIQ3_HUMAN", "url": "https://www.uniprot.org/uniprot/A6PVS8", "type": "external" } ], "mass": 73675.0, "length": 624, "protein_name": "Leucine-rich repeat and IQ domain-containing protein 3", "gene_name": "LRRIQ3", "organism": "Human", "refseq_name": "leucine-rich repeat and IQ domain-containing protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001099129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099129", "type": "external" } ], "gene_names_uniprotkb": "LRRIQ3; LRRC44", "gene_names_refseq": "LRRC44; LRRIQ3", "protein_names_uniprotkb": "Leucine-rich repeat and IQ domain-containing protein 3; Leucine-rich repeat-containing protein 44", "protein_names_refseq": "leucine rich repeat containing 44; leucine-rich repeat and IQ domain-containing protein 3 isoform 1; leucine-rich repeat and IQ domain-containing protein 3; leucine-rich repeat-containing protein 44", "tax_id": 9606, "disease": "", "pathway": " (hsa:127255)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;27893789;28218747;29437277;31492838;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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6PVS9;Q6P5P7;Q6ZMV4;Q8WUE0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A6PVS8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZR2-1", "uniprot_id": [ { "id": "LRP1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZR2", "type": "external" } ], "mass": 515498.0, "length": 4599, "protein_name": "Low-density lipoprotein receptor-related protein 1B", "gene_name": "LRP1B", "organism": "Human", "refseq_name": "low-density lipoprotein receptor-related protein 1B precursor", "refseq_ac": [ { "id": "NP_061027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061027", "type": "external" } ], "gene_names_uniprotkb": "LRP1B; LRPDIT", "gene_names_refseq": "LRP-1B; LRP-DIT; LRP1B; LRPDIT", "protein_names_uniprotkb": "Low-density lipoprotein receptor-related protein 1B; LRP-1B; LRP-DIT; Low-density lipoprotein receptor-related protein-deleted in tumor", "protein_names_refseq": "LRP-deleted in tumors; low density lipoprotein receptor related protein-deleted in tumor; low density lipoprotein receptor-related protein 1B; low density lipoprotein-related protein 1B (deleted in tumors); low-density lipoprotein receptor-related protein 1B precursor", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); lung cancer (Disease Ontology:DOID:1324); epilepsy (Disease Ontology:DOID:1826); melanoma (Disease Ontology:DOID:1909); colon cancer (Disease Ontology:DOID:219); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); gallbladder cancer (Disease Ontology:DOID:3121); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:53353)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10766186;11031110;11237011;11384978;12004004;12194987;15172977;18452278;19664994;23584533;24715725;26768311;27600516;28218747;28228285;28467828;29557506;29741879;29769354;30410026;30429286;30524438;31154438;31844290;31848261;32161166;32357974;32897882;32983136;33592498;33912179;33968037;34171305;34411563;35051231;35580925;37742945;37778229;38253038;38612772;38696842", "class_list": "", "function": "Antitumor immunity and prognosis value elicited by FAT3 and LRP1B co-mutation in endometrial cancer., [RefSeq, PubMed]; LDL Receptor-Related Protein 1B Polymorphisms Associated with Increased Risk of Lymph Node Metastasis in Oral Cancer Group with Diabetes Mellitus. Publication Status: Online-Only, [RefSeq, PubMed]; LRP1B can function as a negative regulator of uPAR regeneration and cell migration., [RefSeq, PubMed]; LRP1B-a prognostic marker in tubo-ovarian high-grade serous carcinoma., [RefSeq, PubMed]; Loss of LRP1B expression drives acquired chemo and radio-resistance in HPV-positive head and neck cancer., [RefSeq, PubMed]; Loss of LRP1B function in esophageal carcinogenesis most often occurs either by homozygous deletion or by transcriptional silencing through hypermethylation of its CpG island., [RefSeq, PubMed]; Potential cell surface proteins that bind and internalize ligands in the process of receptor-mediated endocytosis., [UniProtKB]; The LRP1B gene is a candidate tumor suppressor gene in urothelial cancer., [RefSeq, PubMed]; This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 22, "predicted_n_glycosites": 22, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "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": 24, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 24, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 24, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 756, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 17, "disease_count": 12, "glyco_site_count": 49, "binding_glycan_count": 0, "secondary_ac_list": "Q8WY29;Q8WY30;Q8WY31", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005041 low-density lipoprotein particle receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0016020 membrane", "go_biological_process": "GO:0015031 protein transport;GO:0006898 receptor-mediated endocytosis;GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q9NZR2-1", "record_type": "protein", "filter_code": "0000000.1000111.000100.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK33-1", "uniprot_id": [ { "id": "ZN580_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK33", "type": "external" } ], "mass": 18756.0, "length": 172, "protein_name": "Zinc finger protein 580", "gene_name": "ZNF580", "organism": "Human", "refseq_name": "zinc finger protein 580", "refseq_ac": [ { "id": "NP_001156895", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156895", "type": "external" } ], "gene_names_uniprotkb": "ZNF580", "gene_names_refseq": "ZNF580", "protein_names_uniprotkb": "Zinc finger protein 580; LDL-induced EC protein", "protein_names_refseq": "LDL-induced EC protein; zinc finger protein 580", "tax_id": 9606, "disease": "", "pathway": " (hsa:51157)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;18669648;20382120;21310414;21599657;21830064;24771066;25576301;25645385;26992070;28218747;28446606;28832583;29242379;29331515;29557506;29786170;30192525;30315122;30429286;31092671;31154438;31844290;31848261;32161166;32897882;32938616;32983136;33141586;33592498;33691108;33968037;35051231;36010968;36284347;37938771", "class_list": "", "function": "H2O2 upregulates the expression of ZNF580 via the NF-kappaB signaling pathway, and overexpression of ZNF580 plays a critical role in augmenting the release of pro-inflammatory cytokine IL-8., [RefSeq, PubMed]; Involved in the regulation of endothelial cell proliferation and migration. Mediates H(2)O(2)-induced leukocyte chemotaxis by elevating interleukin-8 production and may play a role in inflammation. May be involved in transcriptional regulation., [UniProtKB, PubMed, PubMed]; These results elucidate the important role that ZNF580 plays in the process of migration and proliferation of endothelial cells, which provides a foundation for a novel approach to regulate angiogenesis., [RefSeq, PubMed]; These results suggest that ZNF580 mediates eNOS expression and endothelial cell migration/proliferation via the TGF-b1/ALK5/Smad2 pathway, and thus plays a crucial role in vascular endothelial cells., [RefSeq, PubMed]; ZNF580 is a binding partner of Smad2 and is involved in the signal transduction of the transforming growth factor-beta signalling pathway., [RefSeq, PubMed]; ZNF580 is a novel factor in the lipoprotein-dependent regulation of endothelial IL-8 expression and monocyte arrest., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RC05;Q9NPP7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9UK33-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2RRD8-1", "uniprot_id": [ { "id": "ZN320_HUMAN", "url": "https://www.uniprot.org/uniprot/A2RRD8", "type": "external" } ], "mass": 59326.0, "length": 509, "protein_name": "Zinc finger protein 320", "gene_name": "ZNF320", "organism": "Human", "refseq_name": "zinc finger protein 320 isoform 1", "refseq_ac": [ { "id": "NP_997216", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997216", "type": "external" } ], "gene_names_uniprotkb": "ZNF320", "gene_names_refseq": "ZFPL; ZNF320", "protein_names_uniprotkb": "Zinc finger protein 320", "protein_names_refseq": "zinc finger gene 320; zinc finger protein 320 isoform 1; zinc finger protein like", "tax_id": 9606, "disease": "", "pathway": " (hsa:162967); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 34, "publication_id_list": "10235266;10330177;11237011;11395415;11536051;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;2028256;2163759;25274305;26813693;28273063;30379171;31289231;31427381;31844290;32983136;36287187;39894887;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; ZNF320 encodes a Kruppel-like zinc finger protein. Members of this protein family are involved in activation or repression of transcription.[supplied by OMIM, Jul 2002]., [RefSeq]; ZNF320 is a hypomethylated prognostic biomarker involved in immune infiltration of hepatocellular carcinoma and associated with cell cycle., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "Q8NDR6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "A2RRD8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14554-1", "uniprot_id": [ { "id": "PDIA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14554", "type": "external" } ], "mass": 59594.0, "length": 519, "protein_name": "Protein disulfide-isomerase A5", "gene_name": "PDIA5", "organism": "Human", "refseq_name": "protein disulfide-isomerase A5 precursor", "refseq_ac": [ { "id": "NP_006801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006801", "type": "external" } ], "gene_names_uniprotkb": "PDIA5; PDIR", "gene_names_refseq": "PDIA5; PDIR", "protein_names_uniprotkb": "Protein disulfide-isomerase A5; 5.3.4.1; Protein disulfide isomerase-related protein", "protein_names_refseq": "protein disulfide isomerase-associated 5; protein disulfide isomerase-related protein; protein disulfide-isomerase A5 precursor; protein disulfide-isomerase A5", "tax_id": 9606, "disease": "", "pathway": " (hsa:10954); (R-HSA-381038)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10.1074/mcp.M114.046862;10601334;10827079;11237011;12204115;14627699;15466936;16461360;16539657;18664523;20796029;21282569;23614004;24715725;25418920;25576301;25645385;25813380;25880248;26154972;27600516;27726376;28467828;28832583;29242379;29317506;29557506;30397120;30459171;30779550;30833945;32157095;32161166;32350084;32357974;32897882;32938616;33592498;33664747;33691108;34019948;34357683;35051231;35154160;35251023;36003400;36241641;37217939;39247813;7556671;7590364;8666242;9037597;9450183;9473480", "class_list": "", "function": "PDIA5 is Correlated With Immune Infiltration and Predicts Poor Prognosis in Gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; Pan-Cancer Analysis of the Immunological Role of PDIA5: A Potential Target for Immunotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; Protein disulfide isomerases are enzymes that mediate oxidative protein folding in the endoplasmic reticulum. Review article, [RefSeq, PubMed]; RUNX1-PDIA5 Axis Promotes Malignant Progression of Glioblastoma by Regulating CCAR1 Protein Expression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. The N-terminal TRX-like domain is the primary binding site for the major ER chaperone calreticulin and possibly other proteins and substrates as well. Alternative splicing results in multiple protein- and non-protein-coding transcript variants. [provided by RefSeq, Dec 2016]., [RefSeq]; Three thioredoxin motifs (CXXC) of purified PDIR were found to contribute to its isomerase 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": 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": 16, "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": "D3DN95;Q9BV43", "ec_number_list": [ { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" } ], "go_molecular_function": "GO:0016491 oxidoreductase activity;GO:0015035 protein-disulfide reductase activity;GO:0003756 protein disulfide isomerase 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:0022900 electron transport chain", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q14554-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBB0-1", "uniprot_id": [ { "id": "THAP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBB0", "type": "external" } ], "mass": 25691.0, "length": 222, "protein_name": "THAP domain-containing protein 6", "gene_name": "THAP6", "organism": "Human", "refseq_name": "THAP domain-containing protein 6 isoform 2", "refseq_ac": [ { "id": "NP_001304720", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304720", "type": "external" } ], "gene_names_uniprotkb": "THAP6", "gene_names_refseq": "THAP6", "protein_names_uniprotkb": "THAP domain-containing protein 6", "protein_names_refseq": "THAP domain-containing protein 6 isoform 2; THAP domain-containing protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:152815)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;25418920;25576301;26375851;26992070;28514659;28832583;28904123;29242379;29331515;29557506;29786170;30315122;30429286;31530632;31844290;32157095;32938616;32983136;33298915;33912179;33968037;35051231;35318648;36241641;36284347", "class_list": "", "function": "DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B4E146;Q5HYJ7;Q5JPC6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003700 DNA-binding transcription factor activity;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0015630 microtubule cytoskeleton;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0001935 endothelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8TBB0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UX01-1", "uniprot_id": [ { "id": "LMBRL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UX01", "type": "external" } ], "mass": 55209.0, "length": 489, "protein_name": "Protein LMBR1L", "gene_name": "LMBR1L", "organism": "Human", "refseq_name": "protein LMBR1L isoform 2", "refseq_ac": [ { "id": "NP_001287679", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287679", "type": "external" } ], "gene_names_uniprotkb": "LMBR1L; KIAA1174; LIMR; PRO783", "gene_names_refseq": "LIMR; LMBR1L", "protein_names_uniprotkb": "Protein LMBR1L; LIMR; Limb region 1 protein homolog-like; Lipocalin-1-interacting membrane receptor", "protein_names_refseq": "limb development membrane protein 1 like-protein; limb region 1 homolog-like; limb region 1 protein homolog-like; limb region 1-like protein -like; lipocalin-1 interacting membrane receptor; lipocalin-interacting membrane receptor; protein LMBR1L isoform 2; protein LMBR1L", "tax_id": 9606, "disease": "bone development disease (Disease Ontology:DOID:0080006)", "pathway": " (hsa:55716)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;11287427;12591932;12975309;16423471;17991420;21791187;23481700;23964685;25418920;25645385;26154972;27846572;27862975;27920218;28218747;28228285;28855257;28904123;29242379;29493099;29508533;29632711;30315122;30429286;30524438;31073040;31844290;32357974;32387766;32938616;32983136;33141586;33592498;33936100;34405274;35051231;35146515", "class_list": "", "function": "Human LIMR, known to act as an endocytic receptor for lipocalin-1, also binds bovine BLG and mediates its cellular uptake., [RefSeq, PubMed]; LIMR mediating internalization of lipocalin-1 (Lcn-1) in NT2 cells, leading to its degradation., [RefSeq, PubMed]; LIMR was shown to be highly specific for Lcn1, binding the lipocalin with low micromolar to high nanomolar affinity, [RefSeq, PubMed]; LMBR1L has an essential function during lymphopoiesis and lymphoid activation, acting as a negative regulator of the Wnt/beta-catenin pathway., [RefSeq, PubMed]; LMBR1L regulates the proliferation and migration of endothelial cells through Norrin/beta-catenin signaling., [RefSeq, PubMed]; Plays an essential role in lymphocyte development by negatively regulating the canonical Wnt signaling pathway (By similarity). In association with UBAC2 and E3 ubiquitin-protein ligase AMFR, promotes the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (By similarity). LMBR1L stabilizes the beta-catenin destruction complex that is required for regulating CTNNB1 levels (By similarity). Acts as a LCN1 receptor and can mediate its endocytosis (PubMed:11287427, PubMed:12591932, PubMed:23964685)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; The receptor to which lipocalin binds is termed tear lipocalin-interacting membrane receptor and it appears to work by endocytosis. 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": 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": "Q969J4;Q96BY8;Q96HN8;Q9NT09;Q9NVE1;Q9NVU9;Q9ULP6", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0007165 signal transduction;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0060218 hematopoietic stem cell differentiation;GO:0006898 receptor-mediated endocytosis;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q6UX01-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86X29-1", "uniprot_id": [ { "id": "LSR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86X29", "type": "external" } ], "mass": 71439.0, "length": 649, "protein_name": "Lipolysis-stimulated lipoprotein receptor", "gene_name": "LSR", "organism": "Human", "refseq_name": "lipolysis-stimulated lipoprotein receptor isoform 3 precursor", "refseq_ac": [ { "id": "NP_991404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_991404", "type": "external" } ], "gene_names_uniprotkb": "LSR; ILDR3; LISCH", "gene_names_refseq": "ILDR3; LISCH7; LSR", "protein_names_uniprotkb": "Lipolysis-stimulated lipoprotein receptor; Angulin-1", "protein_names_refseq": "LISCH protein; angulin-1; immunoglobulin-like domain containing receptor 3; lipolysis-stimulated lipoprotein receptor isoform 3 precursor; lipolysis-stimulated remnant; liver-specific bHLH-Zip transcription factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:51599); (R-HSA-8964038); (R-HSA-8964046)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10191299;10224102;10438503;10852956;11237011;11584272;12221107;12464675;12658354;12700342;12700345;15166224;15265030;15591219;16083285;16179341;16303743;17016520;17018531;1718995;17339654;17389395;17452316;17693683;18083107;18220336;18318008;18452278;18512783;18644789;18669648;18767875;18772377;18782767;19141679;19196236;19413330;19415658;19563754;19592704;19651622;19664994;19664995;19901323;20068231;20166139;20947831;21245199;21406692;221835;22299025;22461740;22764087;23186163;23239027;23584533;24275569;24868095;25418920;25502872;25548167;25699256;25813380;25915661;26129832;26474739;26992070;2722848;27397612;27846572;27862975;27869121;28228285;28467828;28514659;28580691;28834231;28855257;28904123;29242379;29314611;29317506;29437277;29557506;29632046;29632711;29786170;29789417;30250217;30315122;30410026;30459171;30573663;30626607;30779550;30784271;31217245;31611695;31844290;31848261;32157095;32350084;32357974;33866776;33912179;33936100;34087483;34171305;34357683;34403506;34433824;35051231;35154160;35251023;35561310;35580925;36284347;36961882;39587316;8049197;8112342;8146180;8294473;8407899;9633939;9705237;9756920", "class_list": "", "function": "Downregulation of angulin-1/LSR induces malignancy via upregulation of EGF-dependent claudin-2 and TGF-beta-dependent cell metabolism in human lung adenocarcinoma A549 cells. Publication Status: Online-Only, [RefSeq, PubMed]; Probable role in the clearance of triglyceride-rich lipoprotein from blood. Binds chylomicrons, LDL and VLDL in presence of free fatty acids and allows their subsequent uptake in the cells (By similarity). Maintains epithelial barrier function by recruiting MARVELD2/tricellulin to tricellular tight junctions (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Translocation of LSR from tricellular corners causes macropinocytosis at cell-cell interface as a trigger for breaking out of contact 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": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 51, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 54, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 54, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 39, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 53, "binding_glycan_count": 0, "secondary_ac_list": "A6NDW3;B4DKL4;E9PHD4;O00112;O00426;Q6ZT80;Q8NBM0;Q9BT33;Q9UQL3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0030054 cell junction;GO:0070062 extracellular exosome;GO:0034361 very-low-density lipoprotein particle", "go_biological_process": "GO:0060856 establishment of blood-brain barrier;GO:0061833 protein localization to tricellular tight junction;GO:1904274 tricellular tight junction assembly;GO:0001889 liver development;GO:0061436 establishment of skin barrier", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "Q86X29-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53HC5-1", "uniprot_id": [ { "id": "KLH26_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53HC5", "type": "external" } ], "mass": 68139.0, "length": 615, "protein_name": "Kelch-like protein 26", "gene_name": "KLHL26", "organism": "Human", "refseq_name": "kelch-like protein 26 isoform 2", "refseq_ac": [ { "id": "NP_060786", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060786", "type": "external" } ], "gene_names_uniprotkb": "KLHL26", "gene_names_refseq": "KLHL26", "protein_names_uniprotkb": "Kelch-like protein 26", "protein_names_refseq": "kelch-like 26; kelch-like protein 26 isoform 2; kelch-like protein 26", "tax_id": 9606, "disease": "", "pathway": " (hsa:55295)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;23481700;24715725;25418920;25505266;25576301;25880248;25892735;26811146;26992070;27862975;27920218;28832583;28904123;29437277;29557506;30315122;30429286;30779550;31154438;31217245;31844290;31848261;31985165;32157095;32161166;32265295;32387766;32488085;32938616;33141586;33537174;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34185709;34561969;35051231;35580925;36010968;36241641;36581221;37204873", "class_list": "", "function": "May play a role in endo(sarco)plasmic reticulum (ER/SR) mitochondrial signaling (PubMed:37204873). May be part of the ubiquitin-proteasome system (UPS) and affect ubiquitination and degradation of target substrates in cardiomyocytes (PubMed:37204873)., [UniProtKB, PubMed]; Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8TAP0;Q9NUX3", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q53HC5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P38571-1", "uniprot_id": [ { "id": "LICH_HUMAN", "url": "https://www.uniprot.org/uniprot/P38571", "type": "external" } ], "mass": 45419.0, "length": 399, "protein_name": "Lysosomal acid lipase/cholesteryl ester hydrolase", "gene_name": "LIPA", "organism": "Human", "refseq_name": "lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor", "refseq_ac": [ { "id": "NP_000226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000226", "type": "external" } ], "gene_names_uniprotkb": "LIPA", "gene_names_refseq": "CESD; LAL; LIPA", "protein_names_uniprotkb": "Lysosomal acid lipase/cholesteryl ester hydrolase; 3.1.1.13; Acid cholesteryl ester hydrolase; Cholesteryl esterase; Diacylglycerol lipase; LAL; Lipase A; Sterol esterase; Triacylglycerol ester hydrolase; Triacylglycerol lipase", "protein_names_refseq": "acid cholesteryl ester hydrolase; cholesterol ester hydrolase; cholesteryl esterase; diacylglycerol lipase; lipase A, lysosomal acid, cholesterol esterase; lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor; lysosomal acid lipase/cholesteryl ester hydrolase; lysosomal acid lipase; sterol esterase; triacylglycerol ester hydrolase; triacylglycerol lipase", "tax_id": 9606, "disease": "lysosomal acid lipase deficiency (Disease Ontology:DOID:0080217); Wolman disease (Disease Ontology:DOID:14497); cholesterol ester storage disease (Disease Ontology:DOID:14502)", "pathway": " (hsa:3988); (R-HSA-8964038)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "10.1101/2023.09.13.557529;10224102;10438503;11237011;11584272;12221107;12464675;15166224;15265030;15269241;16179341;17018531;1718995;17452316;18644789;18772377;18782767;19141679;19159218;19196236;19563754;19592704;20947831;21654843;21963785;221835;22299025;22764087;24190977;24868095;25418920;25502872;25576301;25699256;25915661;26154972;26474739;26992070;2722848;27452731;27846572;27862975;28467828;28832583;28904123;29242379;29314611;29393594;29557506;29632711;29741879;29786170;30192525;30429286;30573663;30626607;31154438;31844290;31848261;32157095;32162841;32350084;32387766;32488085;32897882;32938616;32983136;33043033;33091337;33392160;33592498;33866776;33912179;33936100;33968037;34078123;34171305;34357683;34433824;35051231;35154160;35580925;36215666;36241641;37074911;37340703;37528297;37541260;37903030;37938771;38422518;38564148;39105498;7204383;8049197;8112342;8146180;8254026;8407899;8598644;8617513;8725147;8941718;8956047;9633819;9705237;9756920", "class_list": "glycogene", "function": "ANGPTL4 Suppresses Clear Cell Renal Cell Carcinoma via Inhibition of Lysosomal Acid Lipase., [RefSeq, PubMed]; Catalyzes the deacylation of cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol (PubMed:15269241, PubMed:1718995, PubMed:7204383, PubMed:8112342, PubMed:9633819). Hydrolyzes triglycerides (1,2,3-triacylglycerol) and diglycerides (such as 1,2-diacylglycerol and 1,3-diacylglycerol) with preference for the acyl moieties at the sn-1 or sn-3 positions (PubMed:7204383, PubMed:8112342)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease?, [RefSeq, PubMed]; Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier. Erratum:[Dig Dis Sci. 2025 Mar;70(3):1253. doi: 10.1007/s10620-025-08905-3. PMID: 39985739], [RefSeq, PubMed]; Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles., [RefSeq, PubMed]; Regional Differences in the Small Intestinal Proteome of Control Mice and of Mice Lacking Lysosomal Acid Lipase., [RefSeq, PubMed]; This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 6, "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": 549, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 46, "disease_count": 3, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B2RBH5;D3DR29;Q16529;Q53H21;Q5T074;Q5T771;Q96EJ0", "ec_number_list": [ { "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.13", "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": "3.1.1.1", "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": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.1.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.79", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.1.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.71", "type": "external" } ], "go_molecular_function": "GO:0004771 sterol ester esterase activity;GO:0016298 lipase activity;GO:0052689 carboxylic ester hydrolase activity", "go_cellular_component": "GO:0005764 lysosome;GO:0043202 lysosomal lumen", "go_biological_process": "GO:0016042 lipid catabolic process;GO:0016125 sterol metabolic process;GO:0034383 low-density lipoprotein particle clearance;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "P38571-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100010000.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29375-1", "uniprot_id": [ { "id": "KDM5A_HUMAN", "url": "https://www.uniprot.org/uniprot/P29375", "type": "external" } ], "mass": 192095.0, "length": 1690, "protein_name": "Lysine-specific demethylase 5A", "gene_name": "KDM5A", "organism": "Human", "refseq_name": "lysine-specific demethylase 5A", "refseq_ac": [ { "id": "NP_001036068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036068", "type": "external" } ], "gene_names_uniprotkb": "KDM5A; JARID1A; RBBP2; RBP2", "gene_names_refseq": "KDM5A; NEDEHC; RBBP-2; RBBP2; RBP2", "protein_names_uniprotkb": "Lysine-specific demethylase 5A; 1.14.11.67; Histone demethylase JARID1A; Jumonji/ARID domain-containing protein 1A; RBBP-2; Retinoblastoma-binding protein 2; [histone H3]-trimethyl-L-lysine(4) demethylase 5A", "protein_names_refseq": "Jumonji, AT rich interactive domain 1A (RBP2-like); [histone H3]-trimethyl-L-lysine(4) demethylase 5A; histone demethylase JARID1A; jumonji/ARID domain-containing protein 1A; lysine (K)-specific demethylase 5A; lysine-specific demethylase 5A; retinoblastoma binding protein 2", "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); prostate cancer (Disease Ontology:DOID:10283); intellectual disability (Disease Ontology:DOID:1059); cryptorchidism (Disease Ontology:DOID:11383); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); lung non-small cell carcinoma (Disease Ontology:DOID:3908); stomach carcinoma (Disease Ontology:DOID:5517); ankylosing spondylitis (Disease Ontology:DOID:7147); alopecia areata (Disease Ontology:DOID:986); El Hayek-Chahrour neurodevelopmental disorder (MONDO:MONDO:0970951)", "pathway": " (hsa:5927); (R-HSA-3214842); (R-HSA-9821002)", "pathway_count": 3, "publication_count": 149, "publication_id_list": "11237011;11358960;15620353;15949438;16362057;16419055;16603237;16603238;16732292;16732293;16738407;17081983;17310255;17311883;17320160;17320161;17320163;17351631;17363312;17713478;17851529;17947579;18003914;18270511;18452278;1857421;18669648;19430464;19502796;19651622;19690332;19691289;19727073;19843542;20023638;20068231;20084082;20129925;20208542;20457893;20622853;20622854;21532585;21960634;22420752;22544926;22615488;23186163;23481700;23531517;24275569;24366607;24714562;24715725;25418920;25505266;25576301;25645385;25880248;25892735;26154972;26375851;26645689;26728094;26811146;26929215;26992070;27214401;27397612;27427228;27499454;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29563586;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33350388;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35314832;35580925;36010968;36112263;36241641;36284347;36509829;37880235;37938771;38230606;38443978;7935440;8414517;9129143", "class_list": "", "function": "Drawing a line between histone demethylase KDM5A and KDM5B: their roles in development and tumorigenesis. Review article, [RefSeq, PubMed]; Fbxo22 inhibits metastasis in triple-negative breast cancer through ubiquitin modification of KDM5A and regulation of H3K4me3 demethylation., [RefSeq, PubMed]; Histone demethylase KDM5 regulates cardiomyocyte maturation by promoting fatty acid oxidation, oxidative phosphorylation, and myofibrillar organization., [RefSeq, PubMed]; Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Regulates specific gene transcription through DNA-binding on 5'-CCGCCC-3' motif (PubMed:18270511). May stimulate transcription mediated by nuclear receptors. Involved in transcriptional regulation of Hox proteins during cell differentiation (PubMed:19430464). May participate in transcriptional repression of cytokines such as CXCL12. Plays a role in the regulation of the circadian rhythm and in maintaining the normal periodicity of the circadian clock. In a histone demethylase-independent manner, acts as a coactivator of the CLOCK-BMAL1-mediated transcriptional activation of PER1/2 and other clock-controlled genes and increases histone acetylation at PER1/2 promoters by inhibiting the activity of HDAC1 (By similarity). Seems to act as a transcriptional corepressor for some genes such as MT1F and to favor the proliferation of cancer cells (PubMed:27427228)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; KDM5 family of demethylases promotes CD44-mediated chemoresistance in pancreatic adenocarcinomas. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanism of KDM5A-mediated H3K4me3 modification in the osteogenic differentiation of mesenchymal stem cells in steroid-induced osteonecrosis of the femoral head., [RefSeq, PubMed]; This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [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": 17, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 41, "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": "A8MV76;Q4LE72;Q86XZ1", "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:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0004857 enzyme inhibitor activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016604 nuclear body;GO:0000785 chromatin", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0032922 circadian regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "P29375-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y624-1", "uniprot_id": [ { "id": "JAM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y624", "type": "external" } ], "mass": 32583.0, "length": 299, "protein_name": "Junctional adhesion molecule A", "gene_name": "F11R", "organism": "Human", "refseq_name": "junctional adhesion molecule A isoform 6 precursor", "refseq_ac": [ { "id": "NP_001335020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335020", "type": "external" } ], "gene_names_uniprotkb": "F11R; JAM1; JCAM; PRO301", "gene_names_refseq": "CD321; F11R; JAM1; JAMA; JAM; JCAM; KAT; PAM-1", "protein_names_uniprotkb": "Junctional adhesion molecule A; JAM-1; JAM-A; Junctional adhesion molecule 1; PAM-1; Platelet F11 receptor; Platelet adhesion molecule 1", "protein_names_refseq": "junctional adhesion molecule 1; junctional adhesion molecule A isoform 6 precursor; junctional adhesion molecule A; platelet F11 receptor; platelet adhesion molecule 1", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); peptic esophagitis (Disease Ontology:DOID:13976); breast cancer (Disease Ontology:DOID:1612); transient cerebral ischemia (Disease Ontology:DOID:224); systemic scleroderma (Disease Ontology:DOID:418)", "pathway": " (hsa:50848); (R-HSA-202733); (R-HSA-216083); (R-HSA-2173791); (R-HSA-420029)", "pathway_count": 5, "publication_count": 201, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10209034;10366422;10395639;10438935;10543983;10593924;10605720;10606205;10640428;10673366;10713152;10753840;10764623;10811134;10877843;10982388;11027562;11158588;11171323;11207550;11230166;11239401;11256994;11447115;11489913;11518510;11564780;11572855;11713259;11779189;11812992;11964389;11980922;12070135;12208882;12469115;12496264;12585966;12665801;12682293;12697893;12782713;12807887;12810109;12953056;12975309;14529530;14615387;14657501;15000751;15240572;15330449;15340161;15345499;15383545;15528364;15681301;15713743;15721307;15761148;1588291;15899827;1591491;16002701;16051604;16129888;16239428;16258728;16297198;16585556;16691243;16731529;16737840;16754661;16783819;16933105;17064312;17099249;17116209;17167768;17172599;17322099;17339034;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;17968485;18083107;18088087;18669648;18707149;18710925;18767875;18775695;19079583;19159218;19279206;19413330;19502598;19651622;19664994;19901323;20033473;20068231;2010551;20166139;20705068;21193412;21258369;21406692;21659548;22299025;22371556;22539938;22884367;23186163;23374253;23481700;2351647;23584533;23945545;24043627;24275569;24764293;2538457;25481868;25502872;25576301;25813380;25880248;26985018;27090790;28467828;28580691;28904123;29242379;29314611;29557506;29741879;30444036;30625033;30833945;31611695;31844290;32162841;32350084;32357974;33298915;33592498;33936100;33970782;33981976;34357683;35067832;35154160;35203384;35251023;35580925;36215666;37060532;468991;7505120;7509040;7521878;7525578;7541634;7542249;7559467;7646439;7685013;8118028;8163559;8166770;8314844;8344274;8560266;8798654;8838667;8910476;9052782;9169774;9233797;9242610;9251239;9295288;9382878;9443892;9565552;9693095;9763524;9858236", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Human Rotavirus strain Wa., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for Mammalian reovirus sigma-1., [UniProtKB, PubMed]; A Transcriptional Link between HER2, JAM-A and FOXA1 in Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; F11 receptor (F11R) was discovered by Kornecki, 1990 (JBC, 265:10042) on platelets. A 100% homology exists between the platelet F11R and human JAM at the protein level., [RefSeq, PubMed]; JAM-A Overexpression in Human Umbilical Cord-Derived Mesenchymal Stem Cells Accelerated the Angiogenesis of Diabetic Wound By Enhancing Both Paracrine Function and Survival of Mesenchymal Stem Cells., [RefSeq, PubMed]; Seems to play a role in epithelial tight junction formation. Appears early in primordial forms of cell junctions and recruits PARD3 (PubMed:11489913). The association of the PARD6-PARD3 complex may prevent the interaction of PARD3 with JAM1, thereby preventing tight junction assembly (By similarity). Plays a role in regulating monocyte transmigration involved in integrity of epithelial barrier (By similarity). Ligand for integrin alpha-L/beta-2 involved in memory T-cell and neutrophil transmigration (PubMed:11812992). Involved in platelet activation (PubMed:10753840)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; The F11 receptor (F11R) was discovered in 1990 (Kornecki et al.), partially sequenced (1995) and cloned (Sobocka, et al) by this group. A 100% homology exists between platelet F11R and JAM., [RefSeq, PubMed]; Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [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": 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": 18, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B7Z941", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0042803 protein homodimerization activity;GO:0045296 cadherin binding;GO:0001618 virus receptor activity;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction;GO:0030054 cell junction;GO:0070062 extracellular exosome", "go_biological_process": "GO:0090559 regulation of membrane permeability;GO:0006954 inflammatory response;GO:0032956 regulation of actin cytoskeleton organization;GO:0072659 protein localization to plasma membrane;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 22.3, "record_id": "Q9Y624-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13875-1", "uniprot_id": [ { "id": "MOBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13875", "type": "external" } ], "mass": 20959.0, "length": 183, "protein_name": "Myelin-associated oligodendrocyte basic protein", "gene_name": "MOBP", "organism": "Human", "refseq_name": "myelin-associated oligodendrocyte basic protein isoform a", "refseq_ac": [ { "id": "NP_001265251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265251", "type": "external" } ], "gene_names_uniprotkb": "MOBP", "gene_names_refseq": "MOBP", "protein_names_uniprotkb": "Myelin-associated oligodendrocyte basic protein", "protein_names_refseq": "myelin-associated oligodendrocyte basic protein isoform a", "tax_id": 9606, "disease": "hypothyroidism (Disease Ontology:DOID:1459); frontotemporal dementia (Disease Ontology:DOID:9255)", "pathway": " (hsa:4336); (R-HSA-8986944)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "10581079;11237011;15009677;17964117;26843422;28683304;31535203;33368549;34694630;34946282;7989345", "class_list": "", "function": "Decreased expression of a number of myelin-related genes, including myelin basic protein (MBP), proteolipid protein (PLP), and myelin-associated oligodendrocyte basic protein (MOBP) was noted in nucleus accumbens of cocaine abusers, [RefSeq, PubMed]; MOBP and HIP1 in multiple system atrophy: New alpha-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis., [RefSeq, PubMed]; MOBP mRNA levels were increased in the DLPFC white matter in patients with a history of substance abuse., [RefSeq, PubMed]; MOBP rs616147 Polymorphism and Risk of Amyotrophic Lateral Sclerosis in a Greek Population: A Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in compacting or stabilizing the myelin sheath, possibly by binding the negatively charged acidic phospholipids of the cytoplasmic membrane., [UniProtKB]; Myelin-associated oligodendrocyte basic protein rs616147 polymorphism as a risk factor for Parkinson's disease., [RefSeq, PubMed]; White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K2C2;G5E945;Q13874;Q6DHZ6;Q8TBJ1", "ec_number_list": [], "go_molecular_function": "GO:0019911 structural constituent of myelin sheath", "go_cellular_component": "GO:0005739 mitochondrion;GO:0048471 perinuclear region of cytoplasm;GO:0036464 cytoplasmic ribonucleoprotein granule", "go_biological_process": "GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q13875-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N370-1", "uniprot_id": [ { "id": "LAT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N370", "type": "external" } ], "mass": 62747.0, "length": 569, "protein_name": "Large neutral amino acids transporter small subunit 4", "gene_name": "SLC43A2", "organism": "Human", "refseq_name": "large neutral amino acids transporter small subunit 4 isoform 1", "refseq_ac": [ { "id": "NP_001271427", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271427", "type": "external" } ], "gene_names_uniprotkb": "SLC43A2; LAT4; PP7664", "gene_names_refseq": "LAT4; SLC43A2", "protein_names_uniprotkb": "Large neutral amino acids transporter small subunit 4; L-type amino acid transporter 4; Solute carrier family 43 member 2", "protein_names_refseq": "L-type amino acid transporter 4; large neutral amino acids transporter small subunit 4 isoform 1; large neutral amino acids transporter small subunit 4; solute carrier family 43 (amino acid system L transporter), member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:124935); (R-HSA-352230)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10358010;10391915;10485994;10698697;10823827;10863037;10891391;10903140;10930503;11237011;11243884;11278508;11318953;11342143;11417227;11591158;11827462;12202949;12527723;12809675;12930836;15151999;15498874;15659399;15918515;18195088;18669648;19664995;19913121;20628086;21097500;23186163;24652292;24715725;25892735;26154972;26305885;27862975;28228285;28467828;28514659;28904123;29242379;29314611;29393594;29557506;29632711;29769354;30315122;30379325;31217245;31844290;32350084;32879489;32938616;32983136;33043033;33077272;33091337;33392160;33592498;33717175;33912179;33936100;34357683;35154160;35251023;35494241;35561310;35580925;37217939;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9878049", "class_list": "", "function": "Cancer SLC43A2 alters T cell methionine metabolism and histone methylation. Erratum:[Nature. 2026 Jan;649(8096):E3. doi: 10.1038/s41586-025-09845-8. PMID: 41388204], [RefSeq, PubMed]; In situ hybridization experiments show that LAT4 mRNA is restricted to the epithelial cells of the distal tubule and the collecting duct in the kidney. In the intestine, LAT4 is mainly present in the cells of the crypt., [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]; Plasma citrulline correlates with basolateral amino acid transporter LAT4 expression in human small intestine., [RefSeq, PubMed]; This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]., [RefSeq]; Uniporter that mediates the transport of the stereospecific L-phenylalanine, L-methionine and L-branched-chain amino acids, between the extracellular space and the cytoplasm and may control the transepithelial (re)absorption of neutral amino acid in kidney and small intestine (PubMed:15659399, PubMed:30379325, PubMed:26305885). The transport activity is mediated through facilitated diffusion and is sodium ions-, chloride ions- and pH-independent (PubMed:15659399) Mediates the efflux of 3,3'-diiodo-L-thyronine (3,3'-T2) and 3-iodo-L-tyrosine (MIT) (PubMed:26305885)., [UniProtKB, PubMed, PubMed, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7Z6X9;C9JNU8;D3DTH9;Q5CD75;Q6IPM1;Q8NBX1;Q8NC21;Q8WZ00", "ec_number_list": [], "go_molecular_function": "GO:0015188 L-isoleucine transmembrane transporter activity;GO:0015179 L-amino acid transmembrane transporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0015175 neutral L-amino acid transmembrane transporter activity;GO:0015190 L-leucine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0015820 L-leucine transport;GO:0006865 amino acid transport;GO:0015804 neutral amino acid transport;GO:0051956 negative regulation of amino acid transport;GO:0015823 phenylalanine transport", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q8N370-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26718-1", "uniprot_id": [ { "id": "NKG2D_HUMAN", "url": "https://www.uniprot.org/uniprot/P26718", "type": "external" } ], "mass": 25304.0, "length": 216, "protein_name": "NKG2-D type II integral membrane protein", "gene_name": "KLRK1", "organism": "Human", "refseq_name": "NKG2-D type II integral membrane protein", "refseq_ac": [ { "id": "NP_031386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031386", "type": "external" } ], "gene_names_uniprotkb": "KLRK1; D12S2489E; NKG2D", "gene_names_refseq": "CD314; D12S2489E; KLRK1; KLR; NKG2-D; NKG2D", "protein_names_uniprotkb": "NKG2-D type II integral membrane protein; Killer cell lectin-like receptor subfamily K member 1; NK cell receptor D; NKG2-D-activating NK receptor", "protein_names_refseq": "NK cell receptor D; NKG2-D type II integral membrane protein; NKG2-D-activating NK receptor; killer cell lectin-like receptor subfamily K, member 1", "tax_id": 9606, "disease": "lymphoproliferative syndrome (Disease Ontology:DOID:0060704); anogenital venereal wart (Disease Ontology:DOID:11168); hepatitis C (Disease Ontology:DOID:1883); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); tuberculosis (Disease Ontology:DOID:399); histiocytoma (Disease Ontology:DOID:4231)", "pathway": " (hsa:100528032); (hsa:22914); (R-HSA-198933); (R-HSA-2172127); (R-HSA-2424491)", "pathway_count": 5, "publication_count": 160, "publication_id_list": "10021361;10026222;10049942;10072481;10224278;10426993;10426994;10449773;10499918;10604985;10744696;10746781;10811803;10940905;11015446;11048639;11094073;11224526;11265639;11368773;11390650;11489943;11513152;11556966;11602640;11751968;11754823;11777960;11807247;11857637;11858820;11861603;11907067;11955593;11955595;11955599;11973127;12213321;12471105;12483297;12588680;12660731;12668644;12679019;12776204;12911816;14523385;14707061;14719373;14970179;15034010;15136729;15155468;15184383;15187158;15240696;15265913;15294961;15304001;15365099;15534202;15536084;15541655;15557162;15580655;15607800;15778510;15781451;15800062;15851719;15864273;15884055;15894612;15940674;16014749;16091383;16129954;16339513;16380601;16444266;16551255;16623599;16737824;16754721;16893496;16904340;16920917;16928187;16933987;16938345;17012248;17045824;17057721;17110943;17202323;17237375;17337780;17483134;17641029;18031695;18037897;18055229;18209062;18234675;18593354;18624290;18629938;18691974;19149696;19359216;19592130;19592646;19658097;19858347;2007850;20093094;20484116;20730098;20865034;20890284;21241660;21659545;21800138;21841309;21877119;21898152;22396535;22480139;23298206;23695528;23696226;2374928;23929856;24305946;25703557;25716998;26284469;26300885;28559451;38410511;38493049;38653235;7531291;7542404;8178173;8663278;8702662;8986718;8995416;9285412;9314561;9396765;9490415;9625766;9655483;9683661;9690470;9700512;9730896;9830044", "class_list": "glycogene", "function": "Elevated levels of cell-free NKG2D-ligands modulate NKG2D surface expression and compromise NK cell function in severe COVID-19 disease. Publication Status: Online-Only, [RefSeq, PubMed]; Evasion of NKG2D-mediated cytotoxic immunity by sarbecoviruses., [RefSeq, PubMed]; Functions as an activating and costimulatory receptor involved in immunosurveillance upon binding to various cellular stress-inducible ligands displayed at the surface of autologous tumor cells and virus-infected cells. Provides both stimulatory and costimulatory innate immune responses on activated killer (NK) cells, leading to cytotoxic activity. Acts as a costimulatory receptor for T-cell receptor (TCR) in CD8(+) T-cell-mediated adaptive immune responses by amplifying T-cell activation. Stimulates perforin-mediated elimination of ligand-expressing tumor cells. Signaling involves calcium influx, culminating in the expression of TNF. Participates in NK cell-mediated bone marrow graft rejection. May play a regulatory role in differentiation and survival of NK cells. Binds to ligands belonging to various subfamilies of MHC class I-related glycoproteins including MICA, MICB, RAET1E, RAET1G, RAET1L/ULBP6, ULBP1, ULBP2, ULBP3 (ULBP2>ULBP1>ULBP3) and ULBP4., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Lower NKG2D expression in hepatic natural killer cells predicts poorer prognosis for chronic hepatitis B patients with cirrhosis., [RefSeq, PubMed]; NKG2D signalling enhances innate and adaptive immune responses (review) Review article, [RefSeq, PubMed]; Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 276, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K7K5;A8K7P4;Q9NR41", "ec_number_list": [], "go_molecular_function": "GO:0032394 MHC class Ib receptor activity;GO:0042802 identical protein binding;GO:0030246 carbohydrate binding;GO:0042288 MHC class I protein binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0031295 T cell costimulation;GO:0002250 adaptive immune response;GO:0034260 negative regulation of GTPase activity", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "P26718-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T6S3-1", "uniprot_id": [ { "id": "PHF19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T6S3", "type": "external" } ], "mass": 65591.0, "length": 580, "protein_name": "PHD finger protein 19", "gene_name": "PHF19", "organism": "Human", "refseq_name": "PHD finger protein 19 isoform b", "refseq_ac": [ { "id": "NP_001009936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009936", "type": "external" } ], "gene_names_uniprotkb": "PHF19; PCL3", "gene_names_refseq": "MTF2L1; PCL3; PHF19; TDRD19B", "protein_names_uniprotkb": "PHD finger protein 19; Polycomb-like protein 3; hPCL3", "protein_names_refseq": "PHD finger protein 19 isoform b; polycomb like 3; polycomb-like protein 3; tudor domain containing 19B", "tax_id": 9606, "disease": "", "pathway": " (hsa:26147); (R-HSA-212300)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "11237011;12351676;12435631;15099518;15563832;16357870;16431907;18491316;18691976;18974356;19026781;19571010;19664994;20075857;20123894;20937877;20974918;21143197;21170310;22323599;22466170;22487681;23104054;23160351;23186163;23228662;23273982;23326524;23431328;23481700;23679895;24074865;25576301;25880248;26992070;28218747;28228285;28832583;28904123;29242379;29437277;29493099;29499137;29632046;29769354;30379171;30410026;30524438;30923826;31086175;31844290;31959557;32157095;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33691108;33717175;33912179;33968037;33981976;34129846;34171305;34390275;34405274;34509645;34932366;35051231;35561310;35580925;36241641;37507137;38755140", "class_list": "", "function": "1q amplification and PHF19 expressing high-risk cells are associated with relapsed/refractory multiple myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; Functional characterization of human Polycomb-like 3 isoforms identifies them as components of distinct EZH2 protein complexes, [RefSeq, PubMed]; Identification of a gene encoding a human homologue of the Drosophila polycomblike protein, hPCL3 gene, encoding two nuclear proteins, hPCL3S and hPCL3L; markedly overexpressed in many types of cancers, [RefSeq, PubMed]; PHD finger protein 19 expression in multiple myeloma: Association with clinical features, induction therapy outcome, disease progression, and survival., [RefSeq, PubMed]; PHF19 activates hedgehog signaling and promotes tumorigenesis in hepatocellular carcinoma., [RefSeq, PubMed]; PHF19 silencing reduces the cell proliferation rate and increases the transendothelial migration capacities of melanoma cell lines., [RefSeq, PubMed]; Polycomb group (PcG) protein that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex, thus enhancing PRC2 H3K27me3 methylation activity (PubMed:15563832, PubMed:18691976, PubMed:23104054, PubMed:23160351, PubMed:23228662, PubMed:23273982, PubMed:29499137, PubMed:31959557). Probably involved in the transition from an active state to a repressed state in embryonic stem cells: acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting H3K36me3 histone demethylases RIOX1 or KDM2B, leading to demethylation of H3K36 and recruitment of the PRC2 complex that mediates H3K27me3 methylation, followed by de novo silencing (PubMed:23160351). Recruits the PRC2 complex to CpG islands and contributes to embryonic stem cell self-renewal. Also binds histone H3 dimethylated at 'Lys-36' (H3K36me2) (PubMed:23104054). Isoform 1 and isoform 2 inhibit transcription from an HSV-tk promoter (PubMed:15563832)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Regulation of hPCL3 isoforms' ubiquitination by TRIM21 in non-small cell lung cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 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": "Q32NF2;Q5T6S4;Q6N038;Q8TBL6;Q9UFS9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0140002 histone H3K4me3 reader activity;GO:0140003 histone H3K36me3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035098 ESC/E(Z) complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0048863 stem cell differentiation;GO:0019827 stem cell population maintenance;GO:0045814 negative regulation of gene expression, epigenetic", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q5T6S3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11831-1", "uniprot_id": [ { "id": "SRF_HUMAN", "url": "https://www.uniprot.org/uniprot/P11831", "type": "external" } ], "mass": 51593.0, "length": 508, "protein_name": "Serum response factor", "gene_name": "SRF", "organism": "Human", "refseq_name": "serum response factor isoform 2", "refseq_ac": [ { "id": "NP_001278930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278930", "type": "external" } ], "gene_names_uniprotkb": "SRF", "gene_names_refseq": "MCM1; SRF", "protein_names_uniprotkb": "Serum response factor; SRF", "protein_names_refseq": "c-fos serum response element-binding transcription factor; minichromosome maintenance 1 homolog; serum response factor isoform 2", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); hypertension (Disease Ontology:DOID:10763); dilated cardiomyopathy (Disease Ontology:DOID:12930); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:6722); (R-HSA-5663220); (R-HSA-9031628); (R-HSA-9634638); (R-HSA-9733709); (R-HSA-9768777)", "pathway_count": 6, "publication_count": 304, "publication_id_list": "10.1101/2023.09.13.557529;10078534;10102273;10203854;10318869;10381005;10542244;10600384;10611221;10611312;10656257;10678165;10734128;10753652;10826704;10831586;10872467;10882540;10958683;10984481;11018254;11027551;11145955;11243864;11280768;11331872;11343657;11567222;11726503;11755530;11840323;11859076;11875118;11889117;11956230;11988758;12070310;12093740;12171911;12399542;12429848;12511643;12577064;12684542;12732141;12805219;12814430;12904306;1377233;14522948;14565952;14597720;14969744;15006353;15085137;15090535;15095414;15102911;1512232;15161978;15282327;15314172;15449318;1547771;15507212;15542842;15564374;15620361;1570299;15705661;15733869;15836632;15864301;15866170;15880109;15897899;15944396;16034366;16054032;16136673;16187211;16199154;16221685;16260776;16287845;16292343;16339507;16407550;16439214;16484497;16574654;16622419;16622420;16732277;16835357;1687959;16943183;17030981;17081983;17088210;17088211;17088212;17129783;17198702;1737036;1740119;17632064;17670796;17898216;18001770;18056528;18088355;18097444;18160048;1833716;18391968;18456662;18497331;18524893;1861162;18669648;18785877;18923426;19061646;19116276;19193899;19194657;19350017;19479054;19664994;19778940;19815554;19926875;20030946;20068231;20101212;2017159;2040600;2046671;20506119;2052361;20591975;2072895;21057636;21074607;2109185;21148482;21326363;21397845;21486943;21576392;21621608;21868368;22053691;22065583;22094460;22275430;22302795;2237820;22424782;22608513;22790947;23186163;23222643;23301498;23801653;24039841;24060757;24275569;24291638;24715725;24914801;25187301;25248477;25298399;25569790;25576301;25748042;26018600;26154972;26279144;26375851;2676516;26783251;26992070;27041596;27128622;27220739;27557932;27862975;27920218;28012964;28076410;28228285;28275114;28286024;28832583;28904123;29242379;29351928;29393594;29508533;29557506;29559111;29632711;29636455;29786170;30315122;30524438;30833945;31154438;31217245;31222486;3127059;31530632;31844290;3203386;32157095;32357974;32387766;32488085;32502341;32933333;32938616;32983136;33054971;33141586;33298915;33392160;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34171305;34211107;34381779;34405274;34509645;34932366;35051231;35138101;35561310;36010968;36241641;36284347;36601855;3672127;37154247;37245628;37558923;38665916;38867256;39531497;7551568;7588619;7592934;7595538;7608156;7624335;7637780;7777577;7823924;7857651;7871435;7876254;7889942;7923378;7929249;8090221;8090222;8248782;8375385;8386592;8407951;8413226;8413279;8483478;8576248;8583621;8635462;8668170;8756618;8846918;8918830;9032251;9042862;9084409;9199319;9264403;9343422;9390517;9418898;9448290;9622090;9649308;9722618;9770464;9774344;9808461;9822744;9858769", "class_list": "", "function": "Cellular myofibromas with SRF fusions: clinicopathological and molecular study of 3 cases of a rare entity and a potential mimic of sarcoma., [RefSeq, PubMed]; Classification of IDH wild-type glioblastoma tumorspheres into low- and high-invasion groups based on their transcriptional program., [RefSeq, PubMed]; Lysine acetyltransferase 14 mediates TGF-beta-induced fibrosis in ovarian endometrioma via co-operation with serum response factor. Publication Status: Online-Only, [RefSeq, PubMed]; MRTF-A/SRF signaling suppresses invasion of oral squamous cell carcinoma., [RefSeq, PubMed]; SRF is a transcription factor that binds to the serum response element (SRE), a short sequence of dyad symmetry located 300 bp to the 5' of the site of transcription initiation of some genes (such as FOS). Together with MRTFA transcription coactivator, controls expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration. The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. Required for cardiac differentiation and maturation., [UniProtKB, UniProtKB]; SRF/MRTF-A and liver cirrhosis: Pathologic associations. Review article, [RefSeq, PubMed]; This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 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": 5, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "Q5T648", "ec_number_list": [], "go_molecular_function": "GO:0010736 serum response element binding;GO:0003700 DNA-binding transcription factor activity;GO:0042803 protein homodimerization activity;GO:0042826 histone deacetylase binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0046016 positive regulation of transcription by glucose;GO:0060379 cardiac muscle cell myoblast differentiation;GO:0006351 DNA-templated transcription;GO:0007507 heart development", "synthesized_glycan_count": 0, "hit_score": 32.6, "record_id": "P11831-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00453-1", "uniprot_id": [ { "id": "LST1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00453", "type": "external" } ], "mass": 10792.0, "length": 97, "protein_name": "Leukocyte-specific transcript 1 protein", "gene_name": "LST1", "organism": "Human", "refseq_name": "leukocyte-specific transcript 1 protein isoform 6", "refseq_ac": [ { "id": "NP_001160010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001160010", "type": "external" } ], "gene_names_uniprotkb": "LST1; B144", "gene_names_refseq": "B144; D6S49E; LST-1; LST1", "protein_names_uniprotkb": "Leukocyte-specific transcript 1 protein; Protein B144", "protein_names_refseq": "leukocyte-specific transcript 1 protein isoform 6; leukocyte-specific transcript 1 protein; lymphocyte antigen 117", "tax_id": 9606, "disease": "graft-versus-host disease (Disease Ontology:DOID:0081267)", "pathway": " (hsa:7940)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10706707;11237011;11478849;14656967;16362817;24275569;24803336;24816991;27384923;29493099;30055863;31154438;35580925;36754676;7590964;9367684", "class_list": "", "function": "Data indicate that the MHC class III gene LST1 5' untranslated regions (5'-UTR) contains several upstream open reading frames (uORFs). Publication Status: Online-Only, [RefSeq, PubMed]; Increased expression of LST1 in GC-responders before therapy warrants further investigation into their role as potential predictors for the response to GC, and in the inflammatory process of rheumatoid arthritis., [RefSeq, PubMed]; Possible role in modulating immune responses. Induces morphological changes including production of filopodia and microspikes when overexpressed in a variety of cell types and may be involved in dendritic cell maturation. Isoform 1 and isoform 2 have an inhibitory effect on lymphocyte proliferation., [UniProtKB, PubMed, PubMed]; Psoriasis was associated with promoter variant, rs9267502 of LST1.Promoter activity was examined and it was larger than that of the other genetic variants, most probably due to changes in binding affinity to transcription factors., [RefSeq, PubMed]; Significance of leukocyte-specific transcript 1 levels in nasal mucosal tissue to predict recurrence of nasal polyps., [RefSeq, PubMed]; The present review describes LST1 promotor, gene organization, splice variants and expression in human tissues, cell lines and cancer with the focus on LST1 expression in inflammation, autoimmune diseases and cancer Review article, [RefSeq, PubMed]; The protein encoded by this gene is a membrane protein that can inhibit the proliferation of lymphocytes. Expression of this gene is enhanced by lipopolysaccharide, interferon-gamma, and bacteria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0S8E0;B0S8E1;B0S8E5;O00452;O00454;Q13669;Q2HNT3;Q5HYS9;Q5SP24;Q5STA5;Q5STA6;Q5STA7;Q5STA8;Q5STW6;Q9UJR5;Q9UJR6;Q9UJR7;Q9UJR8;Q9UJS1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006955 immune response;GO:0016358 dendrite development;GO:0000902 cell morphogenesis;GO:0008360 regulation of cell shape;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "O00453-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46020-1", "uniprot_id": [ { "id": "KPB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P46020", "type": "external" } ], "mass": 137312.0, "length": 1223, "protein_name": "Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform", "gene_name": "PHKA1", "organism": "Human", "refseq_name": "phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 2", "refseq_ac": [ { "id": "NP_001116142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116142", "type": "external" } ], "gene_names_uniprotkb": "PHKA1; PHKA", "gene_names_refseq": "PHKA1; PHKA", "protein_names_uniprotkb": "Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform; Phosphorylase kinase alpha M subunit", "protein_names_refseq": "phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 2; phosphorylase kinase alpha M subunit; phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis", "tax_id": 9606, "disease": "glycogen storage disease IXd (Disease Ontology:DOID:0111040); hypothyroidism (Disease Ontology:DOID:1459); glycogen storage disease (Disease Ontology:DOID:2747)", "pathway": " (hsa:5255); (R-HSA-70221)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10487978;10949035;11237011;12604216;12825073;12930917;13115432;15118078;18323634;18669648;18691976;19690332;2108025;21767668;22238410;23186163;25576301;25645385;2667896;28228285;28832583;29393594;2961257;30315122;30379171;3049072;30779550;30833945;31154438;31222486;31844290;32161166;32357974;32387766;32897882;33298915;33392160;33592498;33691108;33799212;33968037;33981976;34171305;34561969;34932366;35051231;35561310;35580925;36241641;4829444;5264799;5461220;7847371;7902568;8226841;8420990;8755644;8896567;9504428;9691087", "class_list": "", "function": "A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency., [RefSeq, PubMed]; Muscle PHKA deficiency may present as an almost asymptomatic condition, despite a mild impairment of muscle, [RefSeq, PubMed]; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7ZL05;B7ZL07;Q2M3D7", "ec_number_list": [], "go_molecular_function": "GO:0004689 phosphorylase kinase activity;GO:0005516 calmodulin binding", "go_cellular_component": "GO:0005964 phosphorylase kinase complex;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0045819 positive regulation of glycogen catabolic process;GO:0006091 generation of precursor metabolites and energy;GO:0005977 glycogen metabolic process;GO:0005980 glycogen catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P46020-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14003-1", "uniprot_id": [ { "id": "KCNC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14003", "type": "external" } ], "mass": 80578.0, "length": 757, "protein_name": "Voltage-gated potassium channel KCNC3", "gene_name": "KCNC3", "organism": "Human", "refseq_name": "voltage-gated potassium channel KCNC3 isoform 1", "refseq_ac": [ { "id": "NP_004968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004968", "type": "external" } ], "gene_names_uniprotkb": "KCNC3", "gene_names_refseq": "KCNC3; KSHIIID; KV3.3; SCA13", "protein_names_uniprotkb": "Voltage-gated potassium channel KCNC3; KSHIIID; Potassium voltage-gated channel subfamily C member 3; Voltage-gated potassium channel subunit Kv3.3", "protein_names_refseq": "Shaw-related voltage-gated potassium channel protein 3; potassium channel, voltage gated Shaw related subfamily C, member 3; potassium voltage-gated channel, Shaw-related subfamily, member 3; voltage-gated potassium channel KCNC3 isoform 1; voltage-gated potassium channel KCNC3; voltage-gated potassium channel protein KV3.3; voltage-gated potassium channel subunit Kv3.3", "tax_id": 9606, "disease": "spinocerebellar ataxia 13 (Disease Ontology:DOID:0050963)", "pathway": " (hsa:3748); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10712820;11237011;16501573;18539595;19953606;20393197;21231794;21479265;22289912;23481700;23734863;24715725;25152487;25418920;25756792;26442672;26849432;26997484;28467418;29557506;29949095;30379171;30418433;31848261;32157095;32938616;33912179;33968037;34357683", "class_list": "", "function": "Kv3.3 regulates Arp2/3-dependent cortical actin nucleation mediated by Hax-1; resulting cortical actin structures interact with the channel's gating machinery to slow its inactivation rate during sustained membrane depolarizations; a mutation that leads to late-onset spinocerebellar ataxia type 13., [RefSeq, PubMed]; Results therefore confirm the KCNC3R423H allele as causative for SCA13, through a dominant negative effect on KCNC3WT and links with EGFR that account for dominant inheritance, congenital onset, and disease pathology Publication Status: Online-Only, [RefSeq, PubMed]; Study expanded the genotype-phenotype-pathophysiology repertoire of SCA13 by addition of a causative KCNC3 mutation, p.Pro583_Pro585del, its associated phenotype of profound spasticity, and the decreased inactivation rate of the mutant channel., [RefSeq, PubMed]; The Kv channels, or at least Kv3.3, appear to be associated with cell differentiation Publication Status: Online-Only, [RefSeq, PubMed]; The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]., [RefSeq]; This review covers the localization and physiological function of Kv3.3 in the central nervous system and how the normal function of the channel is altered by the disease-causing mutations Review article, [RefSeq, PubMed]; Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. The channel displays rapid activation and inactivation kinetics (PubMed:10712820, PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:22289912, PubMed:23734863, PubMed:25756792, PubMed:26997484). It plays a role in the regulation of the frequency, shape and duration of action potentials in Purkinje cells. Required for normal survival of cerebellar neurons, probably via its role in regulating the duration and frequency of action potentials that in turn regulate the activity of voltage-gated Ca(2+) channels and cellular Ca(2+) homeostasis (By similarity). Required for normal motor function (PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:23734863, PubMed:25756792). Plays a role in the reorganization of the cortical actin cytoskeleton and the formation of actin veil structures in neuronal growth cones via its interaction with HAX1 and the Arp2/3 complex (PubMed:26997484)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 3, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0046872 metal ion binding;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0030425 dendrite;GO:0043204 perikaryon", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0051262 protein tetramerization;GO:0001508 action potential;GO:0006813 potassium ion transport;GO:0030866 cortical actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q14003-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBS0-1", "uniprot_id": [ { "id": "KS6B2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBS0", "type": "external" } ], "mass": 53455.0, "length": 482, "protein_name": "Ribosomal protein S6 kinase beta-2", "gene_name": "RPS6KB2", "organism": "Human", "refseq_name": "ribosomal protein S6 kinase beta-2", "refseq_ac": [ { "id": "NP_003943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003943", "type": "external" } ], "gene_names_uniprotkb": "RPS6KB2; STK14B", "gene_names_refseq": "KLS; P70-beta-1; P70-beta-2; P70-beta; RPS6KB2; S6K-beta2; S6K2; S6KB; S6KI(2); S6Kbeta; SRK; STK14B; p70(S6K)-beta; p70S6Kb", "protein_names_uniprotkb": "Ribosomal protein S6 kinase beta-2; 2.7.11.1; 70 kDa ribosomal protein S6 kinase 2; P70S6K2; S6 kinase-related kinase; S6K-beta-2; S6K-beta; S6K2; SRK; Serine/threonine-protein kinase 14B; p70 S6 kinase beta; p70 S6K-beta; p70 S6KB; p70 ribosomal S6 kinase beta; p70-S6K 2; p70-beta", "protein_names_refseq": "70 kDa ribosomal protein S6 kinase 2; P70S6K2; S6 kinase-related kinase; S6K-beta-2; p70 S6 kinase beta; p70 S6K-beta; p70 S6KB; p70 ribosomal S6 kinase beta; p70-S6K 2; ribosomal protein S6 kinase beta-2; ribosomal protein S6 kinase, 70kDa, polypeptide 2; serine/threonine-protein kinase 14 beta; serine/threonine-protein kinase 14B", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); glucose metabolism disease (Disease Ontology:DOID:4194); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:6199); (R-HSA-198693); (R-HSA-5674400)", "pathway_count": 3, "publication_count": 77, "publication_id_list": "10102273;10358075;10485710;10490847;10490848;11237011;11274386;11715018;11733037;12087098;12150915;12172553;12244303;12524439;12529391;12668767;12713446;12767043;12857750;14617782;15169778;15209375;15527798;15987244;16272144;16640565;17081983;17344846;17525332;17611497;18256540;18954143;19644473;20440266;20489726;22025163;23186163;24715725;25576301;26154972;26992070;27846572;27920218;28832583;28834231;28904123;29242379;29508533;29557506;29632711;29750193;30429286;31217245;31530632;31844290;31848261;32157095;32732916;32938616;33003310;33141586;33298915;33912179;34087483;34561969;34705606;34932366;35580925;38281249;9381178;9445476;9478990;9804755;9812896;9829964;9878560;9895304", "class_list": "", "function": "Activation of Mechanistic Target of Rapamycin (mTOR) in Human Endothelial Cells Infected with Pathogenic Spotted Fever Group Rickettsiae. Publication Status: Online-Only, [RefSeq, PubMed]; Circ-GLI1 promotes metastasis in melanoma through interacting with p70S6K2 to activate Hedgehog/GLI1 and Wnt/beta-catenin pathways and upregulate Cyr61. Publication Status: Online-Only, [RefSeq, PubMed]; NSUN6, an RNA methyltransferase of 5-mC controls glioblastoma response to temozolomide (TMZ) via NELFB and RPS6KB2 interaction., [RefSeq, PubMed]; Phosphorylates specifically ribosomal protein S6 (PubMed:29750193). Seems to act downstream of mTOR signaling in response to growth factors and nutrients to promote cell proliferation, cell growth and cell cycle progression in an alternative pathway regulated by MEAK7 (PubMed:29750193)., [UniProtKB, PubMed]; Ribosomal protein S6 kinase 2 (RPS6KB2) is a potential immunotherapeutic target for cancer that upregulates proinflammatory cytokines. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [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": 18, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "B2RMZ9;B4DML8;O94809;Q9UEC1", "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:0004711 ribosomal protein S6 kinase activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042277 peptide binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0006412 translation;GO:0031929 TOR signaling;GO:0038202 TORC1 signaling;GO:0045948 positive regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9UBS0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S38-1", "uniprot_id": [ { "id": "KS6C1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S38", "type": "external" } ], "mass": 118682.0, "length": 1066, "protein_name": "Inactive ribosomal protein S6 kinase delta-1", "gene_name": "RPS6KC1", "organism": "Human", "refseq_name": "ribosomal protein S6 kinase delta-1 isoform b", "refseq_ac": [ { "id": "NP_001129610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129610", "type": "external" } ], "gene_names_uniprotkb": "RPS6KC1; RPK118", "gene_names_refseq": "NEDSCW; RPK118; RPS6KC1; RSKL1; S6K-delta-1; S6PKh1; humS6PKh1", "protein_names_uniprotkb": "Inactive ribosomal protein S6 kinase delta-1; Ribosomal S6 kinase-like protein with two PSK domains; S6K-delta-1; SPHK1-binding protein; Sphingosine kinase 1-binding protein", "protein_names_refseq": "52 kDa ribosomal protein S6 kinase; SPHK1-binding protein; ribosomal S6 kinase-like protein with two PSK domains 118 kDa protein; ribosomal protein S6 kinase delta-1 isoform b; ribosomal protein S6 kinase delta-1; ribosomal protein S6 kinase, 52kDa, polypeptide 1", "tax_id": 9606, "disease": "neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter (Disease Ontology:DOID:0070697); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:26750)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10552933;11237011;12077123;12471243;15750338;17081983;17344846;18669648;19651622;19664994;20068231;21406692;23186163;24275569;25576301;25645385;25880248;26375851;26992070;27600516;27846572;27862975;28228285;28832583;28834231;28904123;29242379;29493099;29508533;29557506;30315122;30779550;31154438;31222486;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33392160;33592498;33717175;33968037;33981976;34932366;35051231;35318648;35580925;36010968;36241641;41130203", "class_list": "", "function": "Cloning and characterization of RPK118 as a sphingosine kinase-1-binding protein, [RefSeq, PubMed]; Findings indicate that RPK118 is a PRDX3-binding protein that may be involved in transporting PRDX3 from the cytoplasm to its mitochondrial site of function or to other membrane structures via endosome trafficking., [RefSeq, PubMed]; Identified as a pseudokinase and named RSKL1 Review article, [RefSeq, PubMed]; May be involved in transmitting sphingosine-1 phosphate (SPP)-mediated signaling into the cell (PubMed:12077123). Plays a role in the recruitment of PRDX3 to early endosomes (PubMed:15750338)., [UniProtKB, PubMed, PubMed]; Sphingosine kinase catalyzes the formation of sphingosine 1 phosphate, a lipid cellular messenger. The protein encoded by this gene can bind to sphingosine kinase and to phosphatidylinositol 3-phosphate, suggesting a role in sphingosine 1 phophate signaling. The encoded protein can also bind to peroxiredoxin-3 and may help transport it to mitochondria. [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": 19, "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": "B1APS8;B3KVM4;D3DTA4;Q8TDD3;Q9NSF4;Q9UL66", "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:0035091 phosphatidylinositol binding;GO:0106310 protein serine kinase activity;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0016020 membrane;GO:0005764 lysosome", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q96S38-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXS3-1", "uniprot_id": [ { "id": "KLH28_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXS3", "type": "external" } ], "mass": 64192.0, "length": 571, "protein_name": "Kelch-like protein 28", "gene_name": "KLHL28", "organism": "Human", "refseq_name": "kelch-like protein 28 isoform 2", "refseq_ac": [ { "id": "NP_060128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060128", "type": "external" } ], "gene_names_uniprotkb": "KLHL28; BTBD5", "gene_names_refseq": "BTBD5; KLHL28", "protein_names_uniprotkb": "Kelch-like protein 28; BTB/POZ domain-containing protein 5", "protein_names_refseq": "BTB (POZ) domain containing 5; BTB/POZ domain-containing protein 5; kelch-like 28; kelch-like protein 28 isoform 2; kelch-like protein 28", "tax_id": 9606, "disease": "", "pathway": " (hsa:54813)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;25418920;25576301;25892735;26992070;28832583;28834231;29242379;29393594;29493099;29632046;29769354;31844290;31848261;32387766;32488085;32938616;33592498;33912179;33968037;34171305;35051231;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": "Q0VAL5", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9NXS3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51812-1", "uniprot_id": [ { "id": "KS6A3_HUMAN", "url": "https://www.uniprot.org/uniprot/P51812", "type": "external" } ], "mass": 83736.0, "length": 740, "protein_name": "Ribosomal protein S6 kinase alpha-3", "gene_name": "RPS6KA3", "organism": "Human", "refseq_name": "ribosomal protein S6 kinase alpha-3 isoform 1", "refseq_ac": [ { "id": "NP_004577", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004577", "type": "external" } ], "gene_names_uniprotkb": "RPS6KA3; ISPK1; MAPKAPK1B; RSK2", "gene_names_refseq": "CLS; HU-3; ISPK-1; MAPKAPK1B; MRX19; RPS6KA3; RSK2; RSK; S6K-alpha3; XLID19; p90-RSK2; pp90RSK2", "protein_names_uniprotkb": "Ribosomal protein S6 kinase alpha-3; 2.7.11.1; 90 kDa ribosomal protein S6 kinase 3; ISPK-1; Insulin-stimulated protein kinase 1; MAP kinase-activated protein kinase 1b; MAPK-activated protein kinase 1b; MAPKAP kinase 1b; MAPKAPK-1b; RSK-2; Ribosomal S6 kinase 2; S6K-alpha-3; p90-RSK 3; p90RSK3; pp90RSK2", "protein_names_refseq": "MAP kinase-activated protein kinase 1b; MAPK-activated protein kinase 1b; MAPKAP kinase 1b; MAPKAPK-1b; RSK-2; S6K-alpha-3; epididymis secretory sperm binding protein; insulin-stimulated protein kinase 1; p90-RSK 3; ribosomal S6 kinase 2; ribosomal protein S6 kinase alpha-3 isoform 1; ribosomal protein S6 kinase alpha-3; ribosomal protein S6 kinase, 90kDa, polypeptide 3", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability 19 (Disease Ontology:DOID:0112019); intellectual disability (Disease Ontology:DOID:1059); Coffin-Lowry syndrome (Disease Ontology:DOID:3783)", "pathway": " (hsa:6197); (R-HSA-198753); (R-HSA-199920); (R-HSA-2559582); (R-HSA-437239); (R-HSA-442742); (R-HSA-444257); (R-HSA-881907)", "pathway_count": 8, "publication_count": 181, "publication_id_list": "10094187;10319851;10432220;10436156;10480933;10528858;10548110;10608864;10747093;10804209;10818153;10856237;10980595;11114305;11160957;11237011;11340163;11564891;11585927;11698596;12082080;12414794;12601080;12777533;12832467;12842905;12942088;14679213;14986828;15214012;15774718;16213824;16223362;16330023;16456541;16626623;16959974;16964243;17100996;17192257;17213202;17225856;17322306;17344846;17360704;17785199;17785202;17906627;17924679;18156174;18267069;18411265;18478542;18508509;18555777;18555778;18669648;18691976;18722121;18767875;18813292;19007248;19223461;19278660;19369195;19413330;19651622;19664994;19690332;19805069;19901323;19956600;20058876;20068231;20230923;20351173;20452968;21406692;2183031;21979375;22178396;22634325;23186163;23481700;23846687;2405250;24086335;24275569;2448316;24706756;25014166;25576301;25645385;25892735;26154972;26158630;26992070;27600516;27655845;27846572;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29279389;29314611;29331515;29351928;29393594;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30397120;31154438;31217245;31373491;31382504;31844290;31953410;32157095;32350084;32357974;32387766;32488085;32938616;32983136;33298915;33574926;33592498;33717175;33912179;33936100;33968037;34093574;34171305;34185709;34357683;34509645;34561969;34932366;35051231;35251023;35318648;35580925;36010968;36215666;36240223;36284347;37149146;37201672;37285335;37938771;38665916;7493978;7551568;7813820;8141249;8234276;8250835;8349705;8384717;8413215;8413306;8617720;8688489;8884985;8939459;8955270;9651214;9687510;9721721;9770464;9837815;9915826", "class_list": "", "function": "A short peptide LINC00665_18aa encoded by lncRNA LINC00665 suppresses the proliferation and migration of osteosarcoma cells through the regulation of the CREB1/RPS6KA3 interaction. Publication Status: Online-Only, [RefSeq, PubMed]; RSK2 inactivation cooperates with AXIN1 inactivation or beta-catenin activation to promote hepatocarcinogenesis., [RefSeq, PubMed]; Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1 (PubMed:16213824, PubMed:16223362, PubMed:17360704, PubMed:9770464). In fibroblast, is required for EGF-stimulated phosphorylation of CREB1 and histone H3 at 'Ser-10', which results in the subsequent transcriptional activation of several immediate-early genes (PubMed:10436156, PubMed:9770464). In response to mitogenic stimulation (EGF and PMA), phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP (PubMed:16223362). Upon insulin-derived signal, acts indirectly on the transcription regulation of several genes by phosphorylating GSK3B at 'Ser-9' and inhibiting its activity (PubMed:8250835). Phosphorylates RPS6 in response to serum or EGF via an mTOR-independent mechanism and promotes translation initiation by facilitating assembly of the preinitiation complex (PubMed:17360704). In response to insulin, phosphorylates EIF4B, enhancing EIF4B affinity for the EIF3 complex and stimulating cap-dependent translation (PubMed:18508509, PubMed:18813292). Is involved in the mTOR nutrient-sensing pathway by directly phosphorylating TSC2 at 'Ser-1798', which potently inhibits TSC2 ability to suppress mTOR signaling, and mediates phosphorylation of RPTOR, which regulates mTORC1 activity and may promote rapamycin-sensitive signaling independently of the PI3K/AKT pathway (PubMed:18722121). Mediates cell survival by phosphorylating the pro-apoptotic proteins BAD and DAPK1 and suppressing their pro-apoptotic function (PubMed:16213824). Promotes the survival of hepatic stellate cells by phosphorylating CEBPB in response to the hepatotoxin carbon tetrachloride (CCl4) (PubMed:18508509, PubMed:18813292). Is involved in cell cycle regulation by phosphorylating the CDK inhibitor CDKN1B, which promotes CDKN1B association with 14-3-3 proteins and prevents its translocation to the nucleus and inhibition of G1 progression (By similarity). In LPS-stimulated dendritic cells, is involved in TLR4-induced macropinocytosis, and in myeloma cells, acts as effector of FGFR3-mediated transformation signaling, after direct phosphorylation at Tyr-529 by FGFR3 (By similarity). Negatively regulates EGF-induced MAPK1/3 phosphorylation via phosphorylation of SOS1 (By similarity). Phosphorylates SOS1 at 'Ser-1134' and 'Ser-1161' that create YWHAB and YWHAE binding sites and which contribute to the negative regulation of MAPK1/3 phosphorylation (By similarity). Phosphorylates EPHA2 at 'Ser-897', the RPS6KA-EPHA2 signaling pathway controls cell migration (PubMed:26158630). Acts as a regulator of osteoblast differentiation by mediating phosphorylation of ATF4, thereby promoting ATF4 transactivation activity (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The ribosomal S6 kinase 2 (RSK2)-SPRED2 complex regulates the phosphorylation of RSK substrates and MAPK signaling., [RefSeq, PubMed]; This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 38, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2R9V4;Q4VAP3;Q59H26;Q5JPK8;Q7Z3Z7", "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:0004711 ribosomal protein S6 kinase activity;GO:0000287 magnesium ion binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045202 synapse", "go_biological_process": "GO:0043555 regulation of translation in response to stress;GO:0007165 signal transduction;GO:0030307 positive regulation of cell growth;GO:0032496 response to lipopolysaccharide;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "P51812-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0J7-1", "uniprot_id": [ { "id": "KCMF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0J7", "type": "external" } ], "mass": 41945.0, "length": 381, "protein_name": "E3 ubiquitin-protein ligase KCMF1", "gene_name": "KCMF1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase KCMF1", "refseq_ac": [ { "id": "NP_064507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064507", "type": "external" } ], "gene_names_uniprotkb": "KCMF1; FIGC; ZZZ1", "gene_names_refseq": "DEBT91; FIGC; KCMF1; PCMF; ZZZ1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase KCMF1; 2.3.2.27; FGF-induced in gastric cancer; PCMF; Potassium channel modulatory factor; ZZ-type zinc finger-containing protein 1", "protein_names_refseq": "E3 ubiquitin-protein ligase KCMF1; FGF-induced in gastric cancer; FGF-induced ubiquitin-protein ligase in gastric cancers; RING-type E3 ubiquitin transferase KCMF1; ZZ-type zinc finger-containing protein 1; differentially expressed in branching tubulogenesis 91; zinc finger, ZZ domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56888); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15581609;16314831;18669648;18691976;20068231;23186163;23650620;24275569;25582440;28218747;28228285;28510447;28832583;29237092;29242379;29393594;29437277;31844290;32157095;32350084;32387766;32938616;33141586;33298915;33912179;33968037;33981976;34019948;34509645;34893540;35032791;35051231;35251023;36010968;36515749;37217939;37891180;38297121;38665916;39531497;39534244;39894887;40328314;40875847;8692836", "class_list": "", "function": "CircHIPK3 contributes to human villous trophoblast growth, migration and invasion via modulating the pathway of miR-346/KCMF1., [RefSeq, PubMed]; Data indicate that FIGC upregulation in response to basic fibroblast growth factor in gastric cancer might be implicated in carcinogenesis through dysregulation of growth modulator., [RefSeq, PubMed]; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and then transfers it to targeted substrates, promoting their degradation by the proteasome (PubMed:15581609, PubMed:25582440, PubMed:34893540, PubMed:37891180, PubMed:38297121). Together with UBR4, component of the N-end rule pathway: ubiquitinates proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their degradation (PubMed:34893540, PubMed:37891180). Does not ubiquitinate proteins that are acetylated at the N-terminus (PubMed:37891180). Together with UBR4, part of a protein quality control pathway that catalyzes ubiquitination and degradation of proteins that have been oxidized in response to reactive oxygen species (ROS): recognizes proteins with an Arg-CysO3(H) degron at the N-terminus, and mediates assembly of heterotypic 'Lys-63'-/'Lys-27'-linked branched ubiquitin chains on oxidized proteins, leading to their degradation by autophagy (PubMed:34893540). Catalytic component of the silencing factor of the integrated stress response (SIFI) complex, a multiprotein complex that turns off the mitochondrial stress response after a specific stress event has been resolved (PubMed:38297121, PubMed:40328314, PubMed:40875847). The SIFI complex ubiquitinates and degrades (1) components of the HRI-mediated signaling of the integrated stress response, such as DELE1 and EIF2AK1/HRI, as well as (2) unimported mitochondrial precursors such as ABHD10 (PubMed:38297121, PubMed:40328314). Within the SIFI complex, UBR4 initiates ubiquitin chain that are further elongated or branched by KCMF1 (PubMed:38297121, PubMed:40328314, PubMed:40875847)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; KCMF1 regulates autophagy and ion channels' function in renal cell carcinoma: a future therapeutic target., [RefSeq, PubMed]; Suppression of KCMF1 by constitutive high CD99 expression levels contribute to the malignant properties of Ewing's sarcoma by promoting growth and migration of tumor 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": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q4ZG04;Q53SC7;Q9BWK2;Q9H8P5;Q9UFE8", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "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": "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": "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": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "3.4.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.1", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0045202 synapse", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0070936 protein K48-linked ubiquitination;GO:0070534 protein K63-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9P0J7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60256-1", "uniprot_id": [ { "id": "KPRB_HUMAN", "url": "https://www.uniprot.org/uniprot/O60256", "type": "external" } ], "mass": 40926.0, "length": 369, "protein_name": "Phosphoribosyl pyrophosphate synthase-associated protein 2", "gene_name": "PRPSAP2", "organism": "Human", "refseq_name": "phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001230865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230865", "type": "external" } ], "gene_names_uniprotkb": "PRPSAP2", "gene_names_refseq": "PAP41; PRPSAP2", "protein_names_uniprotkb": "Phosphoribosyl pyrophosphate synthase-associated protein 2; 41 kDa phosphoribosypyrophosphate synthetase-associated protein; PAP41; PRPP synthase-associated protein 2", "protein_names_refseq": "41 kDa phosphoribosypyrophosphate synthetase-associated protein; PRPP synthase-associated protein 2; phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 2; phosphoribosyl pyrophosphate synthase-associated protein 2", "tax_id": 9606, "disease": "X-linked nonsyndromic deafness (Disease Ontology:DOID:0050566); Arts syndrome (Disease Ontology:DOID:0050647); Charcot-Marie-Tooth disease X-linked recessive 5 (Disease Ontology:DOID:0110210)", "pathway": " (hsa:5636)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "11237011;17081983;18510355;18669648;19413330;19651622;19690332;20068231;20166139;20230923;21406692;23186163;23301498;24275569;24714562;26154972;26728094;28832583;28904123;29242379;29508533;29557506;29632711;30315122;30779550;30833945;31154438;31530632;31844290;31998317;32157095;32161166;32350084;32387766;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;34171305;34211107;34357683;34433824;34932366;35051231;35138101;35154160;35561310;36010968;37938771;39531497;40914422;9545573", "class_list": "", "function": "Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "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": "B4E1M8;B4E329;B7ZKZ1;E7EMY2;Q6IAS2", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004857 enzyme inhibitor activity;GO:0042802 identical protein binding;GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006139 nucleobase-containing compound metabolic process;GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process;GO:0006164 purine nucleotide biosynthetic process;GO:0009165 nucleotide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "O60256-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75676-1", "uniprot_id": [ { "id": "KS6A4_HUMAN", "url": "https://www.uniprot.org/uniprot/O75676", "type": "external" } ], "mass": 85606.0, "length": 772, "protein_name": "Ribosomal protein S6 kinase alpha-4", "gene_name": "RPS6KA4", "organism": "Human", "refseq_name": "ribosomal protein S6 kinase alpha-4 isoform b", "refseq_ac": [ { "id": "NP_001006945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006945", "type": "external" } ], "gene_names_uniprotkb": "RPS6KA4; MSK2", "gene_names_refseq": "MSK2; RPS6KA4; RSK-B; S6K-alpha-4", "protein_names_uniprotkb": "Ribosomal protein S6 kinase alpha-4; 2.7.11.1; 90 kDa ribosomal protein S6 kinase 4; Nuclear mitogen- and stress-activated protein kinase 2; RSKB; Ribosomal protein kinase B; S6K-alpha-4", "protein_names_refseq": "90 kDa ribosomal protein S6 kinase 4; mitogen- and stress-activated protein kinase 2; nuclear mitogen- and stress-activated protein kinase 2; ribosomal protein S6 kinase alpha-4 isoform b; ribosomal protein S6 kinase alpha-4; ribosomal protein S6 kinase, 90kDa, polypeptide 4; ribosomal protein kinase B", "tax_id": 9606, "disease": "", "pathway": " (hsa:8986); (R-HSA-437239)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10608864;10747093;10804209;10806207;10818153;11035004;11237011;12082080;12773393;12942088;16330023;16964243;17192257;17344846;17429437;18478542;18508628;18669648;18691976;18767875;19278660;19369195;19464896;19651622;19664994;19933278;20068231;23186163;23481700;24275569;2448316;25576301;25645385;26375851;26768311;26992070;28510447;28649982;28832583;29242379;29393594;29493099;29557506;30484775;31844290;31848261;32157095;32161166;32387766;32502341;32938616;32983136;33298915;33592498;33912179;33968037;34087483;34445361;34509645;35051231;35580925;36010968;36241641;36812480;37278562;37462338;7493978;9651214;9687510;9721721;9792677", "class_list": "", "function": "Comprehensive analysis of the RSK gene family in acute myeloid leukemia determines a prognostic signature for the prediction of clinical prognosis and treatment responses., [RefSeq, PubMed]; Mitogen and Stress-Activated Kinases 1 and 2 Mediate Endothelial Dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; Mitogen- and stress-activated protein kinase (MSK1/2) regulated gene expression in normal and disease states. Review article, [RefSeq, PubMed]; Potentially functional genetic variants in RPS6KA4 and MAP2K5 in the MAPK signaling pathway predict HBV-related hepatocellular carcinoma survival., [RefSeq, PubMed]; Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factor RELA, and that contributes to gene activation by histone phosphorylation and functions in the regulation of inflammatory genes. Phosphorylates CREB1 and ATF1 in response to mitogenic or stress stimuli such as UV-C irradiation, epidermal growth factor (EGF) and anisomycin. Plays an essential role in the control of RELA transcriptional activity in response to TNF. Phosphorylates 'Ser-10' of histone H3 in response to mitogenics, stress stimuli and EGF, which results in the transcriptional activation of several immediate early genes, including proto-oncogenes c-fos/FOS and c-jun/JUN. May also phosphorylate 'Ser-28' of histone H3. Mediates the mitogen- and stress-induced phosphorylation of high mobility group protein 1 (HMGN1/HMG14). In lipopolysaccharide-stimulated primary macrophages, acts downstream of the Toll-like receptor TLR4 to limit the production of pro-inflammatory cytokines. Functions probably by inducing transcription of the MAP kinase phosphatase DUSP1 and the anti-inflammatory cytokine interleukin 10 (IL10), via CREB1 and ATF1 transcription factors., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and ATF1. The encoded protein can also phosphorylate histone H3 to regulate certain inflammatory genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 29, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7Z8;O75585;Q53ES8", "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:0004711 ribosomal protein S6 kinase activity;GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0035175 histone H3S10 kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0045202 synapse", "go_biological_process": "GO:0070498 interleukin-1-mediated signaling pathway;GO:0006468 protein phosphorylation;GO:0006954 inflammatory response;GO:0035556 intracellular signal transduction;GO:0043687 post-translational protein modification", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "O75676-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94806-1", "uniprot_id": [ { "id": "KPCD3_HUMAN", "url": "https://www.uniprot.org/uniprot/O94806", "type": "external" } ], "mass": 100471.0, "length": 890, "protein_name": "Serine/threonine-protein kinase D3", "gene_name": "PRKD3", "organism": "Human", "refseq_name": "serine/threonine-protein kinase D3", "refseq_ac": [ { "id": "NP_005804", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005804", "type": "external" } ], "gene_names_uniprotkb": "PRKD3; EPK2; PRKCN", "gene_names_refseq": "EPK2; PKC-NU; PKD3; PRKCN; PRKD3; nPKC-NU", "protein_names_uniprotkb": "Serine/threonine-protein kinase D3; 2.7.11.13; Protein kinase C nu type; Protein kinase EPK2; nPKC-nu", "protein_names_refseq": "protein kinase C nu type; protein kinase EPK2; serine/threonine-protein kinase D3", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:23683); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 121, "publication_id_list": "10.1101/2023.09.13.557529;10231560;10722674;10751414;10802064;10947957;11237011;11937514;14685229;14685263;14976195;15063729;15328338;15337768;16100120;16118219;16380377;16571669;16793762;16895911;16964243;17023427;17050692;17081983;17331073;17344846;17355976;17449912;17591919;17982138;18076381;18165232;18165233;18184806;18669648;18691976;18767875;19005213;19233134;19369195;19413330;19416851;19506037;19651622;20061445;20068231;20110355;20182505;21620961;22517924;22970244;23180825;23186163;23481700;23602659;23754960;24366607;24569996;24782409;24840177;25576301;25645385;25788259;25880248;26154972;26375851;26992070;27846572;27920218;28218747;28228285;28575652;28832583;28904123;29242379;29393594;29437277;29557506;29563527;29632046;29632711;30315122;30429286;30484775;30524438;31154438;31844290;31848261;31895563;32157095;32161166;32265295;32319563;32357974;32387766;32488085;32938616;33298915;33378018;33392160;33691108;33912179;33968037;34171305;34357683;34509645;35051231;35409383;35561310;36010968;36241641;36672148;36902339;36907437;37224812;37390971;4339164;4817756;9188692;9312549;9363775", "class_list": "", "function": "Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress (By similarity)., [UniProtKB]; PRKD3 promotes malignant progression of OSCC by downregulating KLF16 expression., [RefSeq, PubMed]; Protein Kinase D3 (PKD3) Requires Hsp90 for Stability and Promotion of Prostate Cancer Cell Migration. Publication Status: Online-Only, [RefSeq, PubMed]; Protein kinase D3 regulates the expression of the immunosuppressive protein, PDL1, through STAT1/STAT3 signaling., [RefSeq, PubMed]; The catalytic activity of PKD3 may regulate its nuclear import through autophosphorylation and/or interaction with another protein, [RefSeq, PubMed]; This gene belongs to the multigene protein kinase D family of serine/threonine kinases, which bind diacylglycerol and phorbol esters. Members of this family are characterized by an N-terminal regulatory domain comprised of a tandem repeat of cysteine-rich zinc-finger motifs and a pleckstrin domain. The C-terminal region contains the catalytic domain and is distantly related to calcium-regulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including negative regulation of human airway epithelial barrier formation, growth regulation of breast and prostate cancer cells, and vesicle trafficking. [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": 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": 30, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 9753, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D6W587;Q53TR7;Q8NEL8", "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:0004699 diacylglycerol-dependent, calcium-independent serine/threonine kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016301 kinase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0030148 sphingolipid biosynthetic process;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "O94806-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95600-1", "uniprot_id": [ { "id": "KLF8_HUMAN", "url": "https://www.uniprot.org/uniprot/O95600", "type": "external" } ], "mass": 39314.0, "length": 359, "protein_name": "Krueppel-like factor 8", "gene_name": "KLF8", "organism": "Human", "refseq_name": "Krueppel-like factor 8 isoform 2", "refseq_ac": [ { "id": "NP_001152768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001152768", "type": "external" } ], "gene_names_uniprotkb": "KLF8; BKLF3; ZNF741", "gene_names_refseq": "BKLF3; KLF8; ZNF741", "protein_names_uniprotkb": "Krueppel-like factor 8; Basic krueppel-like factor 3; Zinc finger protein 741", "protein_names_refseq": "Krueppel-like factor 8 isoform 2; Kruppel like factor 8; basic krueppel-like factor 3; basic kruppel-like factor 3; krueppel-like factor 8; zinc finger protein 741", "tax_id": 9606, "disease": "", "pathway": " (hsa:11279)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10756197;11836360;12820964;16617055;23134681;25548167;27293988;27397612;28834231;29485866;29493099;30972179;31375868;31844290;32768951;32938616;33392160;33592498;35031788;35051231;35171359;35293014;36284347;38287804", "class_list": "", "function": "CircRNA PVT1 promotes proliferation and chemoresistance of osteosarcoma cells via the miR-24-3p/KLF8 axis., [RefSeq, PubMed]; Circ_0067934 promotes non-small cell lung cancer development by regulating miR-1182/KLF8 axis and activating Wnt/beta-catenin pathway., [RefSeq, PubMed]; KLF8 Promotes the Survival of Lung Adenocarcinoma During Nutrient Deprivation by Regulating the Pentose Phosphate Pathway through SIRT2., [RefSeq, PubMed]; KLF8 is activated by TGF-beta1 via Smad2 and contributes to ovarian cancer progression., [RefSeq, PubMed]; Oncogenic E3 ubiquitin ligase NEDD4 binds to KLF8 and regulates the microRNA-132/NRF2 axis in bladder cancer., [RefSeq, PubMed]; The gene KLF8 is abnormally expressed in a female patient with X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation., [RefSeq, PubMed]; This gene encodes a protein which is a member of the Sp/KLF family of transcription factors. Members of this family contain a C-terminal DNA-binding domain with three Kruppel-like zinc fingers. The encoded protein is thought to play an important role in the regulation of epithelial to mesenchymal transition, a process which occurs normally during development but also during metastasis. A pseudogene has been identified on chromosome 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]., [RefSeq]; Transcriptional repressor and activator. Binds to CACCC-boxes promoter elements. Also binds the GT-box of cyclin D1 promoter and mediates cell cycle progression at G(1) phase as a downstream target of focal adhesion kinase (FAK)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 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": "B4DJN3;E7EQQ8;L0R3U8;L0R4U2;Q2M246;Q59GV5;Q5HYQ5;Q5JXP7;Q6MZJ7;Q9UGC4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO: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", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "O95600-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05129-1", "uniprot_id": [ { "id": "KPCG_HUMAN", "url": "https://www.uniprot.org/uniprot/P05129", "type": "external" } ], "mass": 78448.0, "length": 697, "protein_name": "Protein kinase C gamma type", "gene_name": "PRKCG", "organism": "Human", "refseq_name": "protein kinase C gamma type isoform 1", "refseq_ac": [ { "id": "NP_001303258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303258", "type": "external" } ], "gene_names_uniprotkb": "PRKCG; PKCG", "gene_names_refseq": "PKC-gamma; PKCC; PKCG; PKCI(3); PKCgamma; PRKCG; SCA14", "protein_names_uniprotkb": "Protein kinase C gamma type; 2.7.11.13; PKC-gamma", "protein_names_refseq": "protein kinase C gamma type isoform 1; protein kinase C gamma type", "tax_id": 9606, "disease": "spinocerebellar ataxia 14 (Disease Ontology:DOID:0050964); alcohol use disorder (Disease Ontology:DOID:1574); middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:5582); (R-HSA-111933); (R-HSA-114516); (R-HSA-416993); (R-HSA-418597); (R-HSA-5099900); (R-HSA-76005)", "pathway_count": 7, "publication_count": 50, "publication_id_list": "10194441;10441600;10856305;10954748;11042191;11237011;11313909;12120503;12417016;12644968;12958364;1347957;15851033;15951850;16055064;16377624;16923326;17199046;17629453;18434541;18577758;18669648;18691976;1939224;20214626;20596523;20947020;25418920;26811146;26929215;27846572;28502923;29053796;29242379;30429286;31844290;32387766;35051231;36040231;36274974;36803152;3755548;7559455;7595566;7937899;8375396;8910504;9545390;9753452;9814702", "class_list": "", "function": "AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness. Publication Status: Online-Only, [RefSeq, PubMed]; Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays diverse roles in neuronal cells and eye tissues, such as regulation of the neuronal receptors GRIA4/GLUR4 and GRIN1/NMDAR1, modulation of receptors and neuronal functions related to sensitivity to opiates, pain and alcohol, mediation of synaptic function and cell survival after ischemia, and inhibition of gap junction activity after oxidative stress. Binds and phosphorylates GRIA4/GLUR4 glutamate receptor and regulates its function by increasing plasma membrane-associated GRIA4 expression. In primary cerebellar neurons treated with the agonist 3,5-dihyidroxyphenylglycine, functions downstream of the metabotropic glutamate receptor GRM5/MGLUR5 and phosphorylates GRIN1/NMDAR1 receptor which plays a key role in synaptic plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. May be involved in the regulation of hippocampal long-term potentiation (LTP), but may be not necessary for the process of synaptic plasticity. May be involved in desensitization of mu-type opioid receptor-mediated G protein activation in the spinal cord, and may be critical for the development and/or maintenance of morphine-induced reinforcing effects in the limbic forebrain. May modulate the functionality of mu-type-opioid receptors by participating in a signaling pathway which leads to the phosphorylation and degradation of opioid receptors. May also contributes to chronic morphine-induced changes in nociceptive processing. Plays a role in neuropathic pain mechanisms and contributes to the maintenance of the allodynia pain produced by peripheral inflammation. Plays an important role in initial sensitivity and tolerance to ethanol, by mediating the behavioral effects of ethanol as well as the effects of this drug on the GABA(A) receptors. During and after cerebral ischemia modulate neurotransmission and cell survival in synaptic membranes, and is involved in insulin-induced inhibition of necrosis, an important mechanism for minimizing ischemic injury. Required for the elimination of multiple climbing fibers during innervation of Purkinje cells in developing cerebellum. Is activated in lens epithelial cells upon hydrogen peroxide treatment, and phosphorylates connexin-43 (GJA1/CX43), resulting in disassembly of GJA1 gap junction plaques and inhibition of gap junction activity which could provide a protective effect against oxidative stress (By similarity). Phosphorylates p53/TP53 and promotes p53/TP53-dependent apoptosis in response to DNA damage. Involved in the phase resetting of the cerebral cortex circadian clock during temporally restricted feeding. Stabilizes the core clock component BMAL1 by interfering with its ubiquitination, thus suppressing its degradation, resulting in phase resetting of the cerebral cortex clock (By similarity). Phosphorylates and activates LRRK1, which phosphorylates RAB proteins involved in intracellular trafficking (PubMed:36040231)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; LncRNA IL-17RA-1 Attenuates LPS-Induced Sepsis via miR-7847-3p/PRKCG-Mediated MAPK Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z8Q0", "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": "2.7.11.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.15", "type": "external" }, { "id": "2.7.11.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.16", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "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:0008270 zinc ion binding;GO:0004712 protein serine/threonine/tyrosine kinase activity", "go_cellular_component": "GO:0044305 calyx of Held;GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0032425 positive regulation of mismatch repair;GO:0060384 innervation;GO:0032095 regulation of response to food;GO:0007611 learning or memory;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "P05129-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17658-1", "uniprot_id": [ { "id": "KCNA6_HUMAN", "url": "https://www.uniprot.org/uniprot/P17658", "type": "external" } ], "mass": 58729.0, "length": 529, "protein_name": "Potassium voltage-gated channel subfamily A member 6", "gene_name": "KCNA6", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily A member 6", "refseq_ac": [ { "id": "NP_002226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002226", "type": "external" } ], "gene_names_uniprotkb": "KCNA6", "gene_names_refseq": "HBK2; KCNA6; KV1.6; PPP1R96", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily A member 6; Voltage-gated potassium channel HBK2; Voltage-gated potassium channel subunit Kv1.6", "protein_names_refseq": "human brain potassium channel-2; potassium channel, voltage gated shaker related subfamily A, member 6; potassium voltage-gated channel subfamily A member 6; potassium voltage-gated channel, shaker-related subfamily, member 6; protein phosphatase 1, regulatory subunit 96; voltage-gated potassium channel HBK2; voltage-gated potassium channel protein Kv1.6; voltage-gated potassium channel subunit Kv1.6", "tax_id": 9606, "disease": "episodic ataxia type 1 (Disease Ontology:DOID:0050989); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:3742); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "14575698;18162557;20393197;21231794;2347305;29242379;32350084;34357683;35051231;36318112", "class_list": "", "function": "Analysis of how the RCK2 domain of the human BKCa channel is a calcium sensor, [RefSeq, PubMed]; De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy., [RefSeq, PubMed]; Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008]., [RefSeq]; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient (PubMed:14575698, PubMed:2347305). The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:14575698, PubMed:2347305). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA6, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (By similarity). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation (By similarity). Homotetrameric channels display rapid activation and slow inactivation (PubMed:2347305)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 24, "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": "", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0034705 potassium channel complex;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043679 axon terminus;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "P17658-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41229-1", "uniprot_id": [ { "id": "KDM5C_HUMAN", "url": "https://www.uniprot.org/uniprot/P41229", "type": "external" } ], "mass": 175720.0, "length": 1560, "protein_name": "Lysine-specific demethylase 5C", "gene_name": "KDM5C", "organism": "Human", "refseq_name": "lysine-specific demethylase 5C isoform 2", "refseq_ac": [ { "id": "NP_001140174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140174", "type": "external" } ], "gene_names_uniprotkb": "KDM5C; DXS1272E; JARID1C; SMCX; XE169", "gene_names_refseq": "DXS1272E; JARID1C; KDM5C; MRX13; MRXJ; MRXS16; MRXSCJ; MRXSJ; SMCX; XE169", "protein_names_uniprotkb": "Lysine-specific demethylase 5C; 1.14.11.67; Histone demethylase JARID1C; Jumonji/ARID domain-containing protein 1C; Protein SmcX; Protein Xe169; [histone H3]-trimethyl-L-lysine(4) demethylase 5C", "protein_names_refseq": "JmjC domain-containing protein SMCX; Jumonji, AT rich interactive domain 1C (RBP2-like); Jumonji/ARID domain-containing protein 1C; Smcx homolog, X chromosome; Smcy homolog, X-linked; [histone H3]-trimethyl-L-lysine(4) demethylase 5C; histone demethylase JARID1C; lysine (K)-specific demethylase 5C; lysine-specific demethylase 5C isoform 2; lysine-specific demethylase 5C", "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); stomach cancer (Disease Ontology:DOID:10534); intellectual disability (Disease Ontology:DOID:1059); descending colon cancer (Disease Ontology:DOID:12190); Huntington's disease (Disease Ontology:DOID:12858); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); colon cancer (Disease Ontology:DOID:219); schizophrenia (Disease Ontology:DOID:5419); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:8242); (R-HSA-3214842)", "pathway_count": 2, "publication_count": 119, "publication_id_list": "11237011;15586325;15620353;16362057;16538222;16541399;16603237;16603238;16732292;16732293;16738407;16964243;17081983;17310255;17320160;17320161;17320163;17322306;17351631;17468742;17713478;17947579;18452278;18669648;18767875;19413330;19502796;19636912;19651622;19664994;19690332;19727073;19843542;20023638;20068231;20084082;20129925;20208542;20457893;20622853;20622854;21076407;21406692;21532585;22615488;23186163;23301498;23356856;23481700;24714562;24715725;25418920;25505266;25576301;25645385;25666439;25880248;26154972;26375851;26645689;26728094;26811146;26992070;27214403;27846572;27862975;28262558;28904123;29242379;29557506;29563586;30429286;30484775;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33323928;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34509645;34561969;34725712;34932366;35051231;35561310;35580925;36010968;36241641;36284347;37217939;37938771;38216914;38230606;38285760;38383780;38912581;7667640;7951230;8162017", "class_list": "", "function": "Histone demethylase JARID1C/KDM5C regulates Th17 cells by increasing IL-6 expression in diabetic plasmacytoid dendritic cells. Publication Status: Online-Only, [RefSeq, PubMed]; Histone demethylase KDM5 regulates cardiomyocyte maturation by promoting fatty acid oxidation, oxidative phosphorylation, and myofibrillar organization., [RefSeq, PubMed]; Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:28262558). Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Represses the CLOCK-BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; KDM5C-Mediated Recruitment of BRD4 to Chromatin Regulates Enhancer Activation and BET Inhibitor Sensitivity., [RefSeq, PubMed]; Lysine demethylase 5C inhibits transcription of prefoldin subunit 5 to activate c-Myc signal transduction and colorectal cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]., [RefSeq]; WNT signalling control by KDM5C during development affects cognition., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 44, "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": "B0QZ44;B4E3I2;F5H3T1;Q5JUX3;Q5JUX4;Q5JUX5;Q7Z5S5", "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:0032452 histone demethylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0048511 rhythmic process", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "P41229-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46019-1", "uniprot_id": [ { "id": "KPB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P46019", "type": "external" } ], "mass": 138408.0, "length": 1235, "protein_name": "Phosphorylase b kinase regulatory subunit alpha, liver isoform", "gene_name": "PHKA2", "organism": "Human", "refseq_name": "phosphorylase b kinase regulatory subunit alpha, liver isoform isoform 1", "refseq_ac": [ { "id": "NP_000283", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000283", "type": "external" } ], "gene_names_uniprotkb": "PHKA2; PHKLA; PYK", "gene_names_refseq": "GSD9A; PHKA2; PHK; PYKL; PYK; XLG2; XLG", "protein_names_uniprotkb": "Phosphorylase b kinase regulatory subunit alpha, liver isoform; Phosphorylase kinase alpha L subunit", "protein_names_refseq": "phosphorylase b kinase regulatory subunit alpha, liver isoform isoform 1; phosphorylase kinase alpha L subunit; phosphorylase kinase alpha-subunit", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); glycogen storage disease IXa1 (Disease Ontology:DOID:0111042); glycogen storage disease (Disease Ontology:DOID:2747)", "pathway": " (hsa:5256); (R-HSA-70221)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10.1101/2023.09.13.557529;10330341;10487978;10949035;12604216;12825073;12930917;13115432;15118078;16565220;17689125;18323634;18669648;18691976;19369195;19413330;19690332;20058876;20068231;21767668;23186163;23481700;24275569;25505266;25576301;25892735;2667896;27846572;27920218;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29557506;2961257;29632046;29769354;29786170;30315122;30379171;30418433;30429286;3049072;30833945;31217245;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32897882;32938616;33141586;33298915;33592498;33912179;33968037;34087483;34117828;34561969;35051231;35561310;35580925;36215666;36241641;4829444;5264799;5461220;7549948;7847371;7902568;8226841;8420990;8518797;8733133;8733134;8755644;8896567;9504428;9600238;9691087", "class_list": "", "function": "PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only., [RefSeq, PubMed]; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin., [UniProtKB]; Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K1T1;Q6LAJ5;Q7Z6W0;Q96CR3;Q9UDA1", "ec_number_list": [], "go_molecular_function": "GO:0004689 phosphorylase kinase activity;GO:0005516 calmodulin binding", "go_cellular_component": "GO:0005964 phosphorylase kinase complex;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0036211 protein modification process;GO:0006091 generation of precursor metabolites and energy;GO:0005975 carbohydrate metabolic process;GO:0005977 glycogen metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "P46019-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78412-1", "uniprot_id": [ { "id": "IRX6_HUMAN", "url": "https://www.uniprot.org/uniprot/P78412", "type": "external" } ], "mass": 48240.0, "length": 446, "protein_name": "Iroquois-class homeodomain protein IRX-6", "gene_name": "IRX6", "organism": "Human", "refseq_name": "iroquois-class homeodomain protein IRX-6", "refseq_ac": [ { "id": "NP_077311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077311", "type": "external" } ], "gene_names_uniprotkb": "IRX6; IRX7; IRXB3", "gene_names_refseq": "IRX-3; IRX6; IRX7; IRXB3", "protein_names_uniprotkb": "Iroquois-class homeodomain protein IRX-6; Homeodomain protein IRXB3; Iroquois homeobox protein 6", "protein_names_refseq": "homeodomain protein IRXB3; iroquois homeobox protein 6; iroquois homeobox protein 7; iroquois-class homeodomain protein IRX-6", "tax_id": 9606, "disease": "", "pathway": " (hsa:79190)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "29557506;30063927;30379171;32938616;33392160;33891002", "class_list": "", "function": "A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect., [RefSeq, PubMed]; Genetic variations of HAAO and IRX6 influence susceptibility to hypospadias in the Japanese population., [RefSeq, PubMed]; Transcription factor. Binds to the iroquois binding site (IBS) motif of target genes to regulate gene expression; functions as a transcriptional activator or repressor. Modulates expression of RCVRN, VSX1, BHLHE22/BHLHB5 and TACR3/Nk3r. Required downstream of retinal bipolar cell specification for the terminal differentiation of type 2, type 3a and possibly type 6 bipolar cells., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RN06;Q7Z2K0", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0030182 neuron differentiation;GO:0048468 cell development", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P78412-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03721-1", "uniprot_id": [ { "id": "KCNC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03721", "type": "external" } ], "mass": 69767.0, "length": 635, "protein_name": "Voltage-gated potassium channel KCNC4", "gene_name": "KCNC4", "organism": "Human", "refseq_name": "voltage-gated potassium channel KCNC4 isoform c", "refseq_ac": [ { "id": "NP_001034663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034663", "type": "external" } ], "gene_names_uniprotkb": "KCNC4; C1orf30", "gene_names_refseq": "C1orf30; HKSHIIIC; KCNC4; KSHIIIC; KV3.4", "protein_names_uniprotkb": "Voltage-gated potassium channel KCNC4; KSHIIIC; Potassium voltage-gated channel subfamily C member 4; Voltage-gated potassium channel subunit Kv3.4", "protein_names_refseq": "K+ channel subunit; potassium channel, voltage gated Shaw related subfamily C, member 4; potassium voltage-gated channel, Shaw-related subfamily, member 4; voltage-gated potassium channel KCNC4 isoform c; voltage-gated potassium channel KCNC4; voltage-gated potassium channel subunit KV3.4", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); sciatic neuropathy (Disease Ontology:DOID:11446); status epilepticus (Disease Ontology:DOID:1824)", "pathway": " (hsa:3749); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10.1101/2023.09.13.557529;10048926;11237011;1381835;15485486;20393197;21231794;26648458;29557506;31471334;33298915;33368632;36198500;7993631;9000078;9649584", "class_list": "", "function": "HIF-1alpha regulates the invasion, migration and proliferation of oral cancer cells by regulating Kv3.4 expression., [RefSeq, PubMed]; Kv3.4 was overexpressed in early stages of Alzheimer disease and in advanced stages was present at high levels in neurodegenerative structures. This subunit regulates delayed-rectifier currents, primary determinants of spike repolarization in neurones, [RefSeq, PubMed]; PKCepsilon associates with the Kv3.4 channel to promote its expression in a kinase activity-dependent manner., [RefSeq, PubMed]; The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]., [RefSeq]; This study provides original evidence to demonstrate the early occurrence and high prevalence of abnormal Kv3.4 expression in oral leucoplakias. Our results support a role for Kv3.4 potassium channel in OSCC tumorigenesis rather than tumour progression and disease outcome., [RefSeq, PubMed]; Tunable Action Potential Repolarization Governed by Kv3.4 Channels in Dorsal Root Ganglion Neurons. Publication Status: Online-Only, [RefSeq, PubMed]; Voltage-gated potassium channel that opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient (PubMed:7993631). The channel displays rapid activation and inactivation kinetics (PubMed:7993631)., [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": 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": 6, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q3MIM4;Q5TBI6", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0046872 metal ion binding;GO:0005267 potassium channel activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043679 axon terminus;GO:0045211 postsynaptic membrane;GO:0008076 voltage-gated potassium channel complex;GO:0032809 neuronal cell body membrane", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0007268 chemical synaptic transmission;GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q03721-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13237-1", "uniprot_id": [ { "id": "KGP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13237", "type": "external" } ], "mass": 87432.0, "length": 762, "protein_name": "cGMP-dependent protein kinase 2", "gene_name": "PRKG2", "organism": "Human", "refseq_name": "cGMP-dependent protein kinase 2 isoform b", "refseq_ac": [ { "id": "NP_001269409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269409", "type": "external" } ], "gene_names_uniprotkb": "PRKG2; PRKGR2", "gene_names_refseq": "AMD4; PKG2; PRKG2; PRKGR2; SMDP; cGK2; cGKII", "protein_names_uniprotkb": "cGMP-dependent protein kinase 2; 2.7.11.12; cGK 2; cGK2; cGKII; cGMP-dependent protein kinase II", "protein_names_refseq": "cGMP-dependent protein kinase 2 isoform b; cGMP-dependent protein kinase 2; cGMP-dependent protein kinase II; protein kinase, cGMP-dependent, type II; testicular tissue protein Li 99", "tax_id": 9606, "disease": "withdrawal disorder (Disease Ontology:DOID:0060001); ciliopathy (Disease Ontology:DOID:0060340); acromesomelic dysplasia 4 (Disease Ontology:DOID:0081238); spondylometaphyseal dysplasia (Disease Ontology:DOID:0112295); malignant renovascular hypertension (Disease Ontology:DOID:13730); spondylometaphyseal dysplasia, pagnamenta type (MONDO:MONDO:0030487)", "pathway": " (hsa:5593); (R-HSA-1474151); (R-HSA-4086398); (R-HSA-418457); (R-HSA-9648002); (R-HSA-9918432)", "pathway_count": 6, "publication_count": 156, "publication_id_list": "10085068;10085069;10228156;10380924;10391246;10391247;10395542;10488343;10531334;10588714;10667208;10777564;10858654;11015615;11030334;11038283;11120601;11196150;11563835;11585916;11739732;11825621;11879202;12015605;12054676;12086864;12433685;12471263;12482967;12556497;12727204;12729560;12750467;12764134;12975316;14561760;14660603;14704854;14966563;14977528;15451670;15476407;15494017;15545263;15611108;15659645;16000296;16043511;16483930;16696853;16778797;16880514;16920709;16990611;17344846;17426020;17684012;18182391;18456304;18488142;18502828;18511317;1883349;19177143;19188362;19536106;19666465;19851316;20416930;20418879;20622895;20802526;21118996;21170358;21661760;21779505;21903638;21905185;21905186;22002721;22144181;22179043;22195972;22556146;22589270;22721555;22941947;23151663;23256519;23416699;23514631;23632248;23698361;23904219;23943869;24033119;24725411;24971579;25550383;25713064;25759176;25781681;26085527;26208004;26590425;2661017;26701913;26706195;26769964;26771141;2682646;27094677;27383988;27396271;27410739;27543614;27697864;27791178;28167504;28228593;2841328;28630138;28666118;28778966;29311131;29424242;29557506;31154438;32157095;32877642;33106379;34087483;34782440;35051231;35215835;3536512;36504352;38793607;7498513;7563095;7663943;8068008;8137809;8137944;8307017;8502995;8557689;8607838;8636133;9073455;9389482;9436858;9535793;9810004;9822558;9851253", "class_list": "", "function": "Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia., [RefSeq, PubMed]; Crucial regulator of intestinal secretion and bone growth. Phosphorylates and activates CFTR on the plasma membrane. Plays a key role in intestinal secretion by regulating cGMP-dependent translocation of CFTR in jejunum (PubMed:33106379). Acts downstream of NMDAR to activate the plasma membrane accumulation of GRIA1/GLUR1 in synapse and increase synaptic plasticity. Phosphorylates GRIA1/GLUR1 at Ser-863 (By similarity). Acts as a regulator of gene expression and activator of the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2 in mechanically stimulated osteoblasts. Under fluid shear stress, mediates ERK activation and subsequent induction of FOS, FOSL1/FRA1, FOSL2/FRA2 and FOSB that play a key role in the osteoblast anabolic response to mechanical stimulation (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Inhibition of cGMP-dependent protein kinase II by its own splice isoform, [RefSeq, PubMed]; Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2., [RefSeq, PubMed]; Results show that the fast phase of autophosphorylation of cGMP dependent protein kinase II has a small effect on its activity, whereas the secondary phase involving Ser126 phosphorylation may generate an active form, [RefSeq, PubMed]; The work presented here demonstrates a novel antiproliferative and prodifferentiation role for PKG2 in the colon., [RefSeq, PubMed]; This gene encodes a protein that belongs to the serine/threonine protein kinase family of proteins. The encoded protein binds to and inhibits the activation of several receptor tyrosine kinases. The membrane-bound protein is a regulator of intestinal secretion, bone growth and renin secretion. Alternate splicing results in multiple transcript variants encoding distinct isoforms whose regulatory N-termini differ in length but whose C-terminal catalytic domains are identical. [provided by RefSeq, May 2018]., [RefSeq]; Variable skeletal phenotypes associated with biallelic variants in PRKG2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 10, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 8, "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": "B4DMX3;E7EPE6;O00125;O60916", "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": "1.1.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.153", "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": "4.2.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.3.12", "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:0004692 cGMP-dependent protein kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0051019 mitogen-activated protein kinase binding;GO:0030553 cGMP binding", "go_cellular_component": "GO:0005829 cytosol;GO:0031965 nuclear membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0072659 protein localization to plasma membrane;GO:0032332 positive regulation of chondrocyte differentiation;GO:1903829 positive regulation of protein localization", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "Q13237-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13887-1", "uniprot_id": [ { "id": "KLF5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13887", "type": "external" } ], "mass": 50792.0, "length": 457, "protein_name": "Krueppel-like factor 5", "gene_name": "KLF5", "organism": "Human", "refseq_name": "Krueppel-like factor 5 isoform 2", "refseq_ac": [ { "id": "NP_001273747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273747", "type": "external" } ], "gene_names_uniprotkb": "KLF5; BTEB2; CKLF; IKLF", "gene_names_refseq": "BTEB2; CKLF; IKLF; KLF5", "protein_names_uniprotkb": "Krueppel-like factor 5; BTE-binding protein 2; Basic transcription element-binding protein 2; Colon krueppel-like factor; GC-box-binding protein 2; Intestinal-enriched krueppel-like factor; Transcription factor BTEB2", "protein_names_refseq": "(intestinal Kruppel-like factor; BTE-binding protein 2; GC box binding protein 2; Krueppel-like factor 5 isoform 2; Kruppel like factor 5; Kruppel-like factor 5 (intestinal); basic transcription element binding protein 2; colon krueppel-like factor; colon kruppel-like factor; epididymis secretory sperm binding protein; intestinal-enriched krueppel-like factor; intestinal-enriched kruppel-like factor; krueppel-like factor 5; transcription factor BTEB2", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); intracranial aneurysm (Disease Ontology:DOID:10941); transient cerebral ischemia (Disease Ontology:DOID:224)", "pathway": " (hsa:688); (R-HSA-381340); (R-HSA-9616222)", "pathway_count": 3, "publication_count": 101, "publication_id_list": "10075656;10233885;10330422;10425206;10572182;11095972;11242107;11340171;11369759;11564866;11684017;11867521;11872672;12213831;12242300;12682370;12702500;12829629;12869508;14517214;15273253;15735697;15850785;15919796;16380219;16751774;16959974;17011499;17063141;17562868;17980149;18039846;18452278;18776924;18931025;19043829;19115207;19172745;19448973;20068231;20101261;20661648;21471526;21993314;22371011;22474248;23001182;23134681;23239344;24379003;24398687;24584857;2524830;25784653;26079537;2721961;28032601;28480051;29431622;29557506;30059200;30429286;30484775;30779550;30833945;31154438;31375868;31844290;31848261;32157095;32161166;32938616;33214551;33968037;33981976;34019948;34171305;34185709;35051231;35289036;35580925;36241641;36284347;38747699;38753486;38909912;39534244;40596516;7862113;8325954;8479902;8643605;8695841;8706692;8770873;8846917;8970730;9065481;9177240;9454824;9836620", "class_list": "", "function": "Downregulation of KLF5 by EBER1 via the ERK signaling pathway in EBV-positive nasopharyngeal carcinoma cells: implications for latent EBV infection., [RefSeq, PubMed]; KLF5 inhibition initiates epithelial-mesenchymal transition in non-transformed human squamous epithelial cells., [RefSeq, PubMed]; KLF5 mediates the signaling functions in cell proliferation, cell cycle, apoptosis, migration, differentiation, and stemness by regulating gene expression in response to environment stimuli. [review] Review article, [RefSeq, PubMed]; Linc-ADAIN, a human adipose lincRNA, regulates adipogenesis by modulating KLF5 and IL-8 mRNA stability., [RefSeq, PubMed]; This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. The encoded protein is a transcriptional activator that binds directly to a specific recognition motif in the promoters of target genes. This protein acts downstream of multiple different signaling pathways and is regulated by post-translational modification. It may participate in both promoting and suppressing cell proliferation. Expression of this gene may be changed in a variety of different cancers and in cardiovascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]., [RefSeq]; Transcription factor that binds to GC box promoter elements. Activates the transcription of these genes., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A2TJX0;L0R3U5;L0R4T9;Q9UHP8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0043426 MRF binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:1990859 cellular response to endothelin;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q13887-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14571-1", "uniprot_id": [ { "id": "ITPR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14571", "type": "external" } ], "mass": 308064.0, "length": 2701, "protein_name": "Inositol 1,4,5-trisphosphate-gated calcium channel ITPR2", "gene_name": "ITPR2", "organism": "Human", "refseq_name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform 1", "refseq_ac": [ { "id": "NP_002214", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002214", "type": "external" } ], "gene_names_uniprotkb": "ITPR2", "gene_names_refseq": "ANHD; CFAP48; INSP3R2; IP3R2; ITPR2", "protein_names_uniprotkb": "Inositol 1,4,5-trisphosphate-gated calcium channel ITPR2; IP3 receptor isoform 2; IP3R 2; Inositol 1,4,5-trisphosphate receptor type 2; InsP3R2; Type 2 InsP3 receptor; Type 2 inositol 1,4,5-trisphosphate receptor", "protein_names_refseq": "IP3 receptor; IP3R 2; cilia and flagella associated protein 48; inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform 1; inositol 1,4,5-trisphosphate-gated calcium channel ITPR2; type 2 InsP3 receptor", "tax_id": 9606, "disease": "isolated anhidrosis with normal sweat glands (Disease Ontology:DOID:0060603); pre-eclampsia (Disease Ontology:DOID:10591); gestational diabetes (Disease Ontology:DOID:11714); autosomal dominant cerebellar ataxia (Disease Ontology:DOID:1441); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3709); (R-HSA-111996); (R-HSA-112043); (R-HSA-114508); (R-HSA-139853); (R-HSA-1489509); (R-HSA-2029485); (R-HSA-2871809); (R-HSA-381676); (R-HSA-4086398); (R-HSA-422356); (R-HSA-5218921); (R-HSA-5578775); (R-HSA-5607763); (R-HSA-9664323); (R-HSA-983695)", "pathway_count": 16, "publication_count": 446, "publication_id_list": "10.1101/2023.09.13.557529;10051622;10194514;10206966;10220561;10224668;10318832;10342826;10380924;10391246;10391247;10395542;10421574;10424882;10432293;10488343;10498607;10526167;10556826;10579907;10588714;10648173;10706702;10770799;10773014;10777564;10802064;1081164;10858654;10860980;10861086;10866047;10868950;10880360;10913253;10983984;11015615;11015619;11030334;11042164;11062458;11071853;11071869;11078440;11078469;11080611;11118617;11226282;11237011;11264248;11387210;11395409;11413485;11425868;11449366;11563835;11577798;11600407;11606584;11716850;11749377;11780755;11805119;11815450;11815460;11815462;11815463;11873862;11901194;11904675;11909947;12015605;12032348;12034449;12086864;12117970;12119109;12180908;12181444;12196472;12391145;12401793;12403834;12410638;12417718;12453414;12456653;12471263;12475777;12475787;12482967;12496249;12556497;12573241;12660731;12684222;12729560;12764427;12776187;12832055;12840507;12869549;12887316;12938160;12953268;12975316;1309948;1322796;13459201;13680124;1372004;1372019;1374290;1375264;1376928;14514350;14532121;14704854;14977528;14988243;15000528;15161916;15174025;15187135;15260953;15294978;15305887;15494017;15504896;1550550;15509800;15536084;15545263;15569269;15572341;15585596;15598648;15611108;15678092;15754088;15809313;15879121;15879134;15955806;1599430;15995848;16332676;16443778;16497229;16513675;16556766;16613879;16678913;16714477;16754674;16849466;16861033;16868246;16880514;16906149;16920709;16921024;1693919;16973695;17021801;1702903;1705565;17095603;17224452;17259518;17306374;17357072;17380317;17426020;17444618;17452328;17486119;17502104;17590538;17660294;17684012;17900700;17919183;18006696;18025150;18052078;18070890;18162464;18187424;18202100;18287102;18296442;18326500;18346985;18412318;18420269;18452278;18456304;18488142;18577758;18596693;18596924;18669648;18691976;18818202;18843204;18995841;19033211;19177143;19206206;19249086;19278978;19372136;19536106;19587354;19608738;19751721;19851316;19859570;19861722;20068231;20086079;2011584;20192804;20388710;20807769;21037092;21108950;21118996;21408196;21469132;2175712;21822214;21903638;22180443;22210847;2226863;22427649;22544926;22707725;22941947;22972900;23019322;2303036;2304550;23151663;23186163;23256519;23362265;23416699;23481700;23549614;23610579;23632248;23675550;23904219;23992284;24190977;2430951;24415751;2457808;24714562;2477373;25329695;25418920;25576301;2559024;25645385;25880248;25892735;25994790;26154972;26308095;26375851;26517901;26590425;26728094;26758079;26992070;27543614;27600516;27846572;27862975;27920218;27995898;28063628;28218747;28228285;2838329;2841328;28514659;28645727;28649982;28832583;28834231;28904123;29108130;29242379;29351928;29393594;29437277;29493099;29508533;2953725;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30833945;31067468;31154438;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33526781;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34860335;34932366;3500860;35051231;35154160;3517644;35318648;35494241;35561310;35580925;36010968;36215666;36241641;36284347;36350267;37074911;37938771;3923453;41350704;4589993;6019353;6328127;6335036;6424440;6435940;7517665;7518558;7522622;7524079;7528218;7530449;7538118;7589461;7589840;7592958;7593639;7641683;7687428;7687539;7688784;7691807;7702581;7927516;7929371;7929812;8027028;803528;8081734;8138058;8163536;8226994;8228618;8306975;8340414;8404634;8405712;8457197;8629002;8630736;8631904;8646775;8657103;8675920;8798450;8799126;8830891;8862523;8918259;8947047;8987985;8997178;9000504;9042338;9050880;9073455;9162098;9218480;9235916;9314552;9326643;9341187;9346285;9350615;9382888;9389482;9417641;9488697;9565569;9601053;9697839;9705962;9726229;9729462;9739505;9751501;9857068;9889098;9914469;9920805;9930701;9973503", "class_list": "", "function": "Calcium channel ITPR2 and mitochondria-ER contacts promote cellular senescence and aging. Publication Status: Online-Only, [RefSeq, PubMed]; Candidate Gene of NOS3, MMP3, AGT, and AGT1R and Pathway Analyses for Platelet Reactivity and Clinical Outcomes of Repeat Revascularization After First PCI in Chinese Patients., [RefSeq, PubMed]; ITPR2 and hypertrophy specific gene expression is regulated, in part, by a positive feedback regulation between InsP3R2 and calcineurin-NFATc signaling pathways., [RefSeq, PubMed]; Inositol 1,4,5-trisphosphate receptor gene variants are related to the risk of breast cancer in a Chinese population., [RefSeq, PubMed]; Inositol 1,4,5-trisphosphate-gated calcium channel that upon inositol 1,4,5-trisphosphate binding transports calcium from the endoplasmic reticulum lumen to cytoplasm. Exists in two states; a long-lived closed state where the channel is essentially 'parked' with only very rare visits to an open state and that ligands facilitate the transition from the 'parked' state into a 'drive' mode represented by periods of bursting activity (By similarity)., [UniProtKB, UniProtKB]; Loss of InsP3R2-mediated calcium release causes isolated anhidrosis in humans., [RefSeq, PubMed]; The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 67, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 6, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O94773", "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:0070679 inositol 1,4,5 trisphosphate binding;GO:0005220 inositol 1,4,5-trisphosphate-gated calcium channel activity;GO:0005524 ATP binding;GO:0044325 transmembrane transporter binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0016020 membrane;GO:0043235 receptor complex;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0071320 cellular response to cAMP;GO:0001666 response to hypoxia;GO:0051209 release of sequestered calcium ion into cytosol;GO:0006816 calcium ion transport", "synthesized_glycan_count": 0, "hit_score": 46.1, "record_id": "Q14571-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14695-1", "uniprot_id": [ { "id": "K0087_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14695", "type": "external" } ], "mass": 14937.0, "length": 138, "protein_name": "Uncharacterized protein KIAA0087", "gene_name": "KIAA0087", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "KIAA0087; HA1002", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein KIAA0087", "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": "A1A524;Q75MW1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q14695-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3LHN1-1", "uniprot_id": [ { "id": "KR213_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3LHN1", "type": "external" } ], "mass": 6456.0, "length": 58, "protein_name": "Keratin-associated protein 21-3", "gene_name": "KRTAP21-3", "organism": "Human", "refseq_name": "keratin-associated protein 21-3", "refseq_ac": [ { "id": "NP_001157907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157907", "type": "external" } ], "gene_names_uniprotkb": "KRTAP21-3; KAP21.3", "gene_names_refseq": "KRTAP21-3", "protein_names_uniprotkb": "Keratin-associated protein 21-3", "protein_names_refseq": "keratin-associated protein 21-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:100288323); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;29393594;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q3LHN1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3LI60-1", "uniprot_id": [ { "id": "KR203_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3LI60", "type": "external" } ], "mass": 4909.0, "length": 44, "protein_name": "Keratin-associated protein 20-3", "gene_name": "KRTAP20-3", "organism": "Human", "refseq_name": "keratin-associated protein 20-3", "refseq_ac": [ { "id": "NP_001121549", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121549", "type": "external" } ], "gene_names_uniprotkb": "KRTAP20-3; KAP20.3", "gene_names_refseq": "KAP19D; KAP20.3; KRTAP19P4; KRTAP20-3", "protein_names_uniprotkb": "Keratin-associated protein 20-3", "protein_names_refseq": "keratin associated protein 19 pseudogene 4; keratin-associated protein 20-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:337985)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "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": 0.1, "record_id": "Q3LI60-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3LI63-1", "uniprot_id": [ { "id": "KR201_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3LI63", "type": "external" } ], "mass": 6202.0, "length": 56, "protein_name": "Keratin-associated protein 20-1", "gene_name": "KRTAP20-1", "organism": "Human", "refseq_name": "keratin-associated protein 20-1", "refseq_ac": [ { "id": "NP_853646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_853646", "type": "external" } ], "gene_names_uniprotkb": "KRTAP20-1; KAP20.1", "gene_names_refseq": "KAP20.1; KRTAP20-1", "protein_names_uniprotkb": "Keratin-associated protein 20-1", "protein_names_refseq": "keratin-associated protein 20-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:337975); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15373777;16382671;1691188;1694855;16959974;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q3LI63-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3LI83-1", "uniprot_id": [ { "id": "KR241_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3LI83", "type": "external" } ], "mass": 27719.0, "length": 254, "protein_name": "Keratin-associated protein 24-1", "gene_name": "KRTAP24-1", "organism": "Human", "refseq_name": "keratin-associated protein 24-1", "refseq_ac": [ { "id": "NP_001078924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078924", "type": "external" } ], "gene_names_uniprotkb": "KRTAP24-1; KAP24.1", "gene_names_refseq": "KAP24.1; KRTAP24-1", "protein_names_uniprotkb": "Keratin-associated protein 24-1", "protein_names_refseq": "keratin-associated protein 24-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:643803); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "15373777;16382671;1691188;1694855;1714783;17235325;17521629;23481192;2414304;25208914;29557506;9468612", "class_list": "", "function": "In situ hybridization and indirect immunofluorescence microscopy studies using an antibody derived from KAP24.1 demonstrated specific expression in the middle/upper hair cuticle., [RefSeq, PubMed]; 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": 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": "Q1XDX0", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q3LI83-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4VXA5-1", "uniprot_id": [ { "id": "KHDC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4VXA5", "type": "external" } ], "mass": 27160.0, "length": 237, "protein_name": "KH homology domain-containing protein 1", "gene_name": "KHDC1", "organism": "Human", "refseq_name": "KH homology domain-containing protein 1", "refseq_ac": [ { "id": "NP_085045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085045", "type": "external" } ], "gene_names_uniprotkb": "KHDC1; C6orf147; C6orf148", "gene_names_refseq": "C6orf147; C6orf148; Em:AC019205.8; KHDC1; NDG1; bA257K9.4", "protein_names_uniprotkb": "KH homology domain-containing protein 1", "protein_names_refseq": "KH homology domain containing 1; KH homology domain-containing protein 1; Putative KHDC1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:80759)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;17913455;28218747;28514659;29437277;33912179", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5JSQ7;Q8WTV2;Q96NQ5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q4VXA5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VV43-1", "uniprot_id": [ { "id": "K0319_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VV43", "type": "external" } ], "mass": 117763.0, "length": 1072, "protein_name": "Dyslexia-associated protein KIAA0319", "gene_name": "KIAA0319", "organism": "Human", "refseq_name": "dyslexia-associated protein KIAA0319 isoform b", "refseq_ac": [ { "id": "NP_001161846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161846", "type": "external" } ], "gene_names_uniprotkb": "KIAA0319", "gene_names_refseq": "DYLX2; DYX2; KIAA0319; NMIG", "protein_names_uniprotkb": "Dyslexia-associated protein KIAA0319", "protein_names_refseq": "dyslexia susceptibility 2; dyslexia-associated protein KIAA0319 isoform b; neuronal migration", "tax_id": 9606, "disease": "dyslexia (Disease Ontology:DOID:4428)", "pathway": " (hsa:9856); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 222, "publication_id_list": "10.1101/2023.09.13.557529;10097102;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11231140;11237011;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12834540;12847086;12944396;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15717286;15728179;15802264;15895077;15916959;16103228;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16600991;16707488;16723738;16798879;16880396;16903783;17018281;17035995;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17846832;17978091;18032517;18063668;18093523;18166656;18199683;18388313;1847920;18775314;18790740;18819912;18981233;19092055;19140243;19287005;19296720;19419997;19458185;19536138;19575674;19603039;19679544;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20211604;20231386;20351096;20428113;20448150;20826345;20943657;20946875;21102408;2115402;21187331;21207242;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;26042225;26403691;26829388;2890644;29066855;30315122;30742069;31154438;31204720;32938616;32983136;33592498;3417785;34357683;35031635;35051231;37259151;6146630;7569928;7822302;7877694;8524399;8552632;8553074;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9723620;9736607;9812899", "class_list": "", "function": "By suggesting the presence of common biological processes underlying reading (dis)ability, these findings represent initial support for a generalist effect of the non-additive interdependence between READ1 and the KIAA0319 risk haplotype and can help in clinically assessing the individual risk for Developmental dyslexia., [RefSeq, PubMed]; Cumulative genetic score of KIAA0319 affects reading ability in Chinese children: moderation by parental education and mediation by rapid automatized naming. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites., [UniProtKB, PubMed]; KIAA0319 influences cilia length, cell migration and mechanical cell-substrate interaction. Publication Status: Online-Only, [RefSeq, PubMed]; Residues in strands B and E, and the BC loop of AAVR PKD2 interact directly with the AAV2 capsid., [RefSeq, PubMed]; Results indicate that the polymorphisms rs4504469, rs2038137, rs2179515, rs3212236, rs6935076, rs9461045, rs2143340 and rs761100 have no association between the polymorphisms and dyslexia risk [Meta-analysis]., [RefSeq, PubMed]; These results support previous studies indicating the 5' region of the KIAA0319 gene as the location of risk alleles contributing to RD., [RefSeq, PubMed]; This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]", "predicted_glycosites": 11, "predicted_n_glycosites": 8, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 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": 1, "reported_glycation": 0, "reported_snv": 61, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A7MD37;B2RTU7;B4DHA7;B4DK75;B7ZML3;F5H123;Q9UJC8;Q9Y4G7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0030669 clathrin-coated endocytic vesicle membrane;GO:0031410 cytoplasmic vesicle;GO:0031901 early endosome membrane", "go_biological_process": "GO:0001764 neuron migration;GO:2000171 negative regulation of dendrite development;GO:0060391 positive regulation of SMAD protein signal transduction;GO:0030517 negative regulation of axon extension;GO:0048692 negative regulation of axon extension involved in regeneration", "synthesized_glycan_count": 0, "hit_score": 22.7, "record_id": "Q5VV43-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z4H8-1", "uniprot_id": [ { "id": "PLGT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z4H8", "type": "external" } ], "mass": 58572.0, "length": 507, "protein_name": "Protein O-glucosyltransferase 3", "gene_name": "POGLUT3", "organism": "Human", "refseq_name": "protein O-glucosyltransferase 3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_714916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_714916", "type": "external" } ], "gene_names_uniprotkb": "POGLUT3; KDELC2; PRO4350", "gene_names_refseq": "KDELC2; POGLUT3", "protein_names_uniprotkb": "Protein O-glucosyltransferase 3; 2.4.1.-; 2.4.2.-; KDEL motif-containing protein 2; Protein O-xylosyltransferase POGLUT3", "protein_names_refseq": "KDEL (Lys-Asp-Glu-Leu) containing 2; KDEL motif containing 2; KDEL motif-containing protein 2; protein O-glucosyltransferase 3 isoform 1 precursor; protein O-xylosyltransferase POGLUT3", "tax_id": 9606, "disease": "", "pathway": " (hsa:143888)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;12975309;19159218;20068231;23090970;23481700;23584533;24190977;25418920;25645385;25813380;25892735;26154972;26992070;27862975;27920218;28832583;28904123;29242379;29331515;29493099;29557506;29741879;29769354;29786170;30127001;31844290;32387766;32488085;32502341;32938616;33141586;33537174;33592498;33717175;33936100;33968037;33981976;34019948;34087483;34211107;34357683;34405274;34411563;34509645;35051231;35138101;35251023;35289036;35580925;36010968;36215666;36241641;38665916;41350704", "class_list": "glycogene;glycosyltransferase", "function": "POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1., [RefSeq, PubMed]; Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C (PubMed:30127001). Can also catalyze the transfer of xylose from UDP-xylose but less efficiently (PubMed:30127001). Specifically targets extracellular EGF repeats of proteins such as NOTCH1, NOTCH3, FBN1, FBN2 and LTBP1 (PubMed:30127001, PubMed:34411563). May regulate the transport of NOTCH1 and NOTCH3 to the plasma membrane and thereby the Notch signaling pathway (PubMed:30127001)., [UniProtKB, PubMed, 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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 621, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q6UWW2;Q6ZUM9;Q8N7L8;Q8NE24", "ec_number_list": [ { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.376", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.376", "type": "external" }, { "id": "2.4.2.63", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.63", "type": "external" } ], "go_molecular_function": "GO:0046527 glucosyltransferase activity;GO:0035252 UDP-xylosyltransferase activity;GO:0035251 UDP-glucosyltransferase activity;GO:0140561 EGF-domain serine glucosyltransferase activity;GO:0140562 EGF-domain serine xylosyltransferase activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0012505 endomembrane system", "go_biological_process": "GO:0180059 protein O-linked glycosylation via glucose", "synthesized_glycan_count": 6710, "hit_score": 8.4, "record_id": "Q7Z4H8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6L1-1", "uniprot_id": [ { "id": "KTAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6L1", "type": "external" } ], "mass": 14679.0, "length": 136, "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit KCP2", "gene_name": "KRTCAP2", "organism": "Human", "refseq_name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit KCP2", "refseq_ac": [ { "id": "NP_776251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776251", "type": "external" } ], "gene_names_uniprotkb": "KRTCAP2; KCP2", "gene_names_refseq": "KCP2; KRTCAP2", "protein_names_uniprotkb": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit KCP2; KCP-2; Keratinocyte-associated protein 2; Oligosaccharyl transferase subunit KCP2", "protein_names_refseq": "KCP-2; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit KCP2; keratinocytes associated protein 2; oligosaccharyl transferase subunit KCP2", "tax_id": 9606, "disease": "", "pathway": " (hsa:200185)", "pathway_count": 1, "publication_count": 90, "publication_id_list": "11237011;12752121;17697703;18669648;20068231;21768116;22266900;22467853;23186163;23783831;24029068;24715725;25418920;25576301;25645385;25892735;26154972;26992070;27600516;27846572;27862975;28218747;28228285;28446606;28514659;28832583;28834231;28855257;28860277;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31611695;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33091337;33123756;33298915;33537174;33592498;33717175;33912179;33936100;33968037;34087483;34171305;34357683;34405274;34509645;34561969;34932366;35051231;35251023;35580925;36010968;36215666;36241641;36284347;36581221;36634487;37938771;8265661", "class_list": "", "function": "DC2 and KCP2 mediate the interaction between the oligosaccharyltransferase STT3A and the endoplasmic reticulum translocon., [RefSeq, PubMed]; Data strongly support the proposal that KCP2 is a newly identified subunit of the N-glycosylation machinery present in a subset of eukaryotes, [RefSeq, PubMed]; KRTCAP2 as an immunological and prognostic biomarker of hepatocellular carcinoma., [RefSeq, PubMed]; Subunit of STT3A-containing oligosaccharyl transferase (OST-A) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:22467853, PubMed:28860277). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER) (PubMed:22467853, PubMed:28860277). Within the OST-A complex, acts as an adapter that anchors the OST-A complex to the Sec61 complex (PubMed:28860277). May be involved in N-glycosylation of APP (amyloid-beta precursor protein) (PubMed:21768116). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1 (PubMed:21768116)., [UniProtKB, PubMed, PubMed, PubMed, 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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4Q1;Q6PG45;Q86XW2;Q8IWS4", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0008250 oligosaccharyltransferase complex;GO:0160226 oligosaccharyltransferase complex A;GO:0016020 membrane", "go_biological_process": "GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q8N6L1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NB78-1", "uniprot_id": [ { "id": "KDM1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NB78", "type": "external" } ], "mass": 92098.0, "length": 822, "protein_name": "Lysine-specific histone demethylase 2", "gene_name": "KDM1B", "organism": "Human", "refseq_name": "lysine-specific histone demethylase 2 isoform 2", "refseq_ac": [ { "id": "NP_694587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694587", "type": "external" } ], "gene_names_uniprotkb": "KDM1B; AOF1; C6orf193; LSD2", "gene_names_refseq": "AOF1; C6orf193; KDM1B; LSD2", "protein_names_uniprotkb": "Lysine-specific histone demethylase 2; 1.14.99.66; Flavin-containing amine oxidase domain-containing protein 1; Lysine-specific histone demethylase 1B", "protein_names_refseq": "flavin-containing amine oxidase domain-containing protein 1; lysine (K)-specific demethylase 1B; lysine-specific histone demethylase 1B; lysine-specific histone demethylase 2 isoform 2; lysine-specific histone demethylase 2", "tax_id": 9606, "disease": "retinoblastoma (Disease Ontology:DOID:768)", "pathway": " (hsa:221656); (R-HSA-3214842); (R-HSA-5689603); (R-HSA-9029569)", "pathway_count": 4, "publication_count": 143, "publication_id_list": "10.1101/2023.09.13.557529;10858438;11149950;11237011;11500512;11604492;11875109;12032151;12150943;12454263;12612088;14703507;14764426;15147902;15620353;16362057;16603237;16603238;16732292;16732293;16738407;16906146;17139257;17186944;17310255;17320163;17351631;17713478;17947579;18220336;18497827;18669648;18782758;19188440;19481530;19502796;19727073;19815555;19843542;20023638;20068231;20084082;20129925;20208542;20436459;20457893;20466882;20466885;20494359;20566875;20622853;20622854;20670891;20805357;20855588;21187453;21310851;21507939;21532585;22541735;22615488;22673513;22869377;23186163;23260659;23266887;23357850;23496987;23519696;23790976;24275569;24714562;24715725;2530630;25576301;25645385;25880248;25892735;26154972;26984517;26992070;27397612;27543614;27600516;27846572;27862975;27920218;28082258;28218747;28228285;28514659;28832583;28834231;28842423;28869506;29242379;29393594;29437277;29508533;29557506;29563586;29632046;29772548;29786170;29789417;30315122;30410026;30429286;30524438;30664650;30970244;31217245;31844290;32157095;32357974;32488085;32502341;32561536;32897882;32938616;32983136;33141586;33537174;33592498;33717175;33912179;33968037;34019948;34171305;34185709;34329293;34561969;34932366;35051231;35327654;35580925;36010968;36075448;36241641;36284347;37227723;9528852;9790970", "class_list": "", "function": "CircKDM1B promotes hepatocellular carcinoma progression through regulating miR-1322/PRC1 axis., [RefSeq, PubMed]; Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function (Karytinos et al., 2009 [PubMed 19407342]).[supplied by OMIM, Oct 2009]., [RefSeq]; Histone demethylase AMX-1 is necessary for proper sensitivity to interstrand crosslink DNA damage. Publication Status: Online-Only, [RefSeq, PubMed]; Histone demethylase that demethylates 'Lys-4' of histone H3, a specific tag for epigenetic transcriptional activation, thereby acting as a corepressor. Required for de novo DNA methylation of a subset of imprinted genes during oogenesis. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Demethylates both mono- and di-methylated 'Lys-4' of histone H3. Has no effect on tri-methylated 'Lys-4', mono-, di- or tri-methylated 'Lys-9', mono-, di- or tri-methylated 'Lys-27', mono-, di- or tri-methylated 'Lys-36' of histone H3, or on mono-, di- or tri-methylated 'Lys-20' of histone H4. Alone, it is unable to demethylate H3K4me on nucleosomes and requires the presence of GLYR1 to achieve such activity, they form a multifunctional enzyme complex that modifies transcribed chromatin and facilitates Pol II transcription through nucleosomes (PubMed:30970244)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Human LSD2/KDM1b/AOF1 regulates gene transcription by modulating intragenic H3K4me2 methylation., [RefSeq, PubMed]; Lysine demethylase 1B (Kdm1b) enhances somatic reprogramming through inducing pluripotent gene expression and promoting cell proliferation., [RefSeq, PubMed]; The Role of LSD1 and LSD2 in Cancers of the Gastrointestinal System: An Update. 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": 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": 33, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2A2C5;A2A2C6;Q5TGV3;Q6AI15;Q6ZUU4;Q8N258;Q96EL7", "ec_number_list": [ { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "1.14.99.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.66", "type": "external" }, { "id": "1.14.11.69", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.69", "type": "external" }, { "id": "1.14.11.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.66", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "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:0071949 FAD binding;GO:0016491 oxidoreductase activity;GO:0042393 histone binding;GO:0032452 histone demethylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0000786 nucleosome;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0071514 genomic imprinting;GO:0040029 epigenetic regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q8NB78-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCW0-1", "uniprot_id": [ { "id": "KREM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCW0", "type": "external" } ], "mass": 48849.0, "length": 462, "protein_name": "Kremen protein 2", "gene_name": "KREMEN2", "organism": "Human", "refseq_name": "kremen protein 2 isoform e precursor", "refseq_ac": [ { "id": "NP_001240654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240654", "type": "external" } ], "gene_names_uniprotkb": "KREMEN2; KRM2", "gene_names_refseq": "KREMEN2; KRM2", "protein_names_uniprotkb": "Kremen protein 2; Dickkopf receptor 2; Kringle domain-containing transmembrane protein 2; Kringle-containing protein marking the eye and the nose", "protein_names_refseq": "dickkopf receptor 2; kremen protein 2 isoform e precursor; kremen protein 2; kringle domain-containing transmembrane protein 2; kringle-containing protein marking the eye and the nose", "tax_id": 9606, "disease": "", "pathway": " (hsa:79412); (R-HSA-201681); (R-HSA-3772470); (R-HSA-5339717)", "pathway_count": 4, "publication_count": 111, "publication_id_list": "10.1101/2023.09.13.557529;10198061;10201374;10347172;11029007;11137016;11357136;11433302;11448771;11493532;11742004;12050670;12167704;12205098;12223464;12527209;12775774;12897152;14636582;14981260;15084453;15208637;15256437;15454084;15459103;15778503;15908424;16116452;16172602;16280981;16427602;16554443;16723543;16971168;17047023;17143291;17234765;17462603;18044981;18077588;18322270;18423204;18502762;18606139;19000841;19158955;19174556;19208630;19307728;19619488;19755491;20004982;20053636;20093360;20846389;21383061;21743455;21875946;21944579;21984209;22000855;22000856;22014570;22411803;22653731;22773843;22951645;22986341;23256519;23481700;23791946;24190977;24715725;25576301;25645385;25880248;25892735;26992070;27600516;27846572;28228285;28832583;28904123;29242379;29314611;29769354;30315122;30779550;31069116;31217245;31844290;31998317;32157095;32161166;32357974;33141586;33298915;33691108;33717175;33912179;33981976;34087483;34932366;35051231;35251023;35318648;36241641;38615731;9135132;9391096;9501980", "class_list": "", "function": "KREMEN2 is upregulated in cancers, consistent with its role in inhibiting Kremen1-induced cell death Publication Status: Online-Only, [RefSeq, PubMed]; N[6]-Methyladenosine-Modified KREMEN2 Promotes Tumorigenesis and Malignant Progression of High-Grade Serous Ovarian Cancer., [RefSeq, PubMed]; Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation., [UniProtKB, UniProtKB]; The mRNA expression levels of DKK-1 binding receptor LRP5/6 and Krm1/2 in SCs from patients with MM were significantly higher than those in myeloma cells and in SCs from healthy donors. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor. A similar protein in mouse functions interacts with with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein forms a ternary membrane complex with DKK1 and the WNT receptor lipoprotein receptor-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "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": "B4DXF6;I3L2S2;Q8N2J4;Q8NCW1;Q96GL8;Q9BTP9", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0016055 Wnt signaling pathway;GO:0060173 limb development;GO:0030279 negative regulation of ossification", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q8NCW0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAE7-1", "uniprot_id": [ { "id": "KCNG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAE7", "type": "external" } ], "mass": 49593.0, "length": 436, "protein_name": "Voltage-gated potassium channel regulatory subunit KCNG3", "gene_name": "KCNG3", "organism": "Human", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNG3 isoform 1", "refseq_ac": [ { "id": "NP_579875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_579875", "type": "external" } ], "gene_names_uniprotkb": "KCNG3", "gene_names_refseq": "KCNG3; KV10.1; KV6.3", "protein_names_uniprotkb": "Voltage-gated potassium channel regulatory subunit KCNG3; Potassium voltage-gated channel subfamily G member 3; Voltage-gated potassium channel subunit Kv10.1; Voltage-gated potassium channel subunit Kv6.3", "protein_names_refseq": "potassium channel, voltage gated modifier subfamily G, member 3; potassium voltage-gated channel, subfamily G, member 3; voltage-gated potassium channel 6.3; voltage-gated potassium channel Kv10.1; voltage-gated potassium channel regulatory subunit KCNG3 isoform 1; voltage-gated potassium channel regulatory subunit KCNG3; voltage-gated potassium channel subunit Kv10.1; voltage-gated potassium channel subunit Kv6.3; voltage-gated potassium channel subunit Kv6.4", "tax_id": 9606, "disease": "", "pathway": " (hsa:170850); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "11852086;12060745;19074135;20393197;21231794;22204340;26530050;27600516;30718673;32157095;35051231;35494241;37217939", "class_list": "", "function": "Obligatory heterotetramerization of three previously uncharacterized Kv channel subunits identified in human genome (Kv6.3)(Kv10.1) (Kv11.1), [RefSeq, PubMed]; Original association of ion transporters mediates the ECM-induced breast cancer cell survival: Kv10.1-Orai1-SPCA2 partnership. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory subunit of the voltage-gated potassium (Kv) channel which, when coassembled with KCNB1, modulates the kinetics parameters of the heterotetrameric channel namely the inactivation and deactivation rate (PubMed:11852086, PubMed:12060745, PubMed:19074135). Potassium channel subunit that does not form functional channels by itself (PubMed:11852086, PubMed:12060745). Reduces the deactivation rate (PubMed:11852086). Moderately accelerates activation (PubMed:12060745)., [UniProtKB, PubMed, PubMed, PubMed]; The correlation between dismal prognosis and Kv10.1 expression to patients with brain metastases or glioblastoma multiforme and, moreover, they strongly suggest a role of tricyclic antidepressants for personalized therapy of brain malignancies. Publication Status: Online-Only, [RefSeq, PubMed]; These results indicate that Kv6.3 is a novel member of the voltage-gated K(+) channel which functions as a modulatory subunit of the Kv2.1 channel., [RefSeq, PubMed]; Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; [review] an overview of the current status of data linking K(V)10.1 to cancer, and techniques that could exploit K(V)10.1's properties for the management of cancer 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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53SC1", "ec_number_list": [], "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0043266 regulation of potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8TAE7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWG9-1", "uniprot_id": [ { "id": "KCNE4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWG9", "type": "external" } ], "mass": 23806.0, "length": 221, "protein_name": "Potassium voltage-gated channel subfamily E member 4", "gene_name": "KCNE4", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily E member 4", "refseq_ac": [ { "id": "NP_542402", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542402", "type": "external" } ], "gene_names_uniprotkb": "KCNE4", "gene_names_refseq": "KCNE4; MIRP3", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily E member 4; MiRP3; MinK-related peptide 3; Minimum potassium ion channel-related peptide 3; Potassium channel subunit beta MiRP3", "protein_names_refseq": "MINK-related peptide 3; cardiac voltage-gated potassium channel accessory subunit 4; minimum potassium ion channel-related peptide 3; potassium channel subunit beta MiRP3; potassium channel, voltage gated subfamily E regulatory beta subunit 4; potassium voltage-gated channel subfamily E member 4; potassium voltage-gated channel, Isk-related family, member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:23704); (R-HSA-5576890); (R-HSA-5576893)", "pathway_count": 3, "publication_count": 24, "publication_id_list": "10219239;10646604;12096056;12670483;12944270;15266014;15707997;16939434;16949586;18093912;19687231;20533308;24591645;25966690;27147833;27162025;34272451;35915077;36459833;37074911;37569725;39118175;7586312;9230439", "class_list": "", "function": "Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. KCNE4 beta subunit modulates the gating kinetics and enhances stability of the channel complex (PubMed:12096056, PubMed:19687231, PubMed:20533308, PubMed:27162025). Associates with KCNQ1/KVLTQ1 alpha subunit to inhibit potassium currents (PubMed:12096056, PubMed:19687231, PubMed:20533308, PubMed:27162025)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Based upon previous studies and the present results, it is concluded that both hKCNE4 and mKCNE4 have a drastic inhibitory impact on both hKCNQ1 and mKCNQ1 currents., [RefSeq, PubMed]; Expressed strongly in heart, skeletal muscle, and kidney, less in placenta, lung, and liver, and weakly in brain and blood cells. Electrophysiological study showed that KCNE4 modulates the activation of the KCNQ1 channel., [RefSeq, PubMed]; Induction of potassium channel regulator KCNE4 in a submandibular lymph node metastasis model. Publication Status: Online-Only, [RefSeq, PubMed]; KCNE4 beta-subunit has a drastic inhibitory effect on currents generated by Kv1.1 and Kv1.3 potassium channels, [RefSeq, PubMed]; KCNE4 expression is correlated with the pathological characteristics of colorectal cancer patients and associated with the radioresistance of cancer cells., [RefSeq, PubMed]; KCNE4 is a crucial host factor for Orf virus infection by mediating viral entry. Publication Status: Online-Only, [RefSeq, PubMed]; KCNE4-dependent functional consequences of Kv1.3-related leukocyte physiology. Publication Status: Online-Only, [RefSeq, PubMed]; May inhibit KCNQ4-mediated potassium currents., [UniProtKB, PubMed]; Vitamin D Receptor Deficiency Upregulates Pulmonary Artery Kv7 Channel Activity. Publication Status: Online-Only, [RefSeq, PubMed]; Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [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": 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": 1, "reported_interactions": 0, "missing_score": 9474, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A5H1P5;B7Z275;Q53SM4;Q96CC4", "ec_number_list": [], "go_molecular_function": "GO:0019870 potassium channel inhibitor activity;GO:0015459 potassium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0086011 membrane repolarization during action potential;GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential;GO:0086091 regulation of heart rate by cardiac conduction;GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization;GO:0086005 ventricular cardiac muscle cell action potential", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8WWG9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RP8-1", "uniprot_id": [ { "id": "KCNA7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RP8", "type": "external" } ], "mass": 50559.0, "length": 456, "protein_name": "Potassium voltage-gated channel subfamily A member 7", "gene_name": "KCNA7", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily A member 7", "refseq_ac": [ { "id": "NP_114092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114092", "type": "external" } ], "gene_names_uniprotkb": "KCNA7", "gene_names_refseq": "HAK6; KCNA7; KV1.7", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily A member 7; Voltage-gated potassium channel subunit Kv1.7", "protein_names_refseq": "potassium channel, voltage gated shaker related subfamily A, member 7; potassium voltage-gated channel subfamily A member 7; potassium voltage-gated channel, shaker-related subfamily, member 7; voltage-dependent potassium channel Kv1.7; voltage-gated potassium channel KCNA7; voltage-gated potassium channel subunit Kv1.7", "tax_id": 9606, "disease": "episodic ataxia type 1 (Disease Ontology:DOID:0050989); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:3743); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "11368907;11896454;15639836;20393197;21231794;22438204;25418920;28171595;29557506;32387766;32938616;35051231;35494241", "class_list": "", "function": "Expressed in heart, but not the cause of progressive familial heart block I., [RefSeq, PubMed]; For FOXK1 and KCNA7, the age effect on the sperm epigenome was replicated in an independent cohort of 188 sperm samples., [RefSeq, PubMed]; Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient (By similarity)., [UniProtKB, UniProtKB]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]., [RefSeq]; The authors conclude that K(v) 1.7 contributes to the membrane-repolarizing current of beta cells during glucose-stimulated insulin., [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": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1KYX7;Q9BYS4", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96RP8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S16-1", "uniprot_id": [ { "id": "JMJD8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S16", "type": "external" } ], "mass": 29509.0, "length": 264, "protein_name": "JmjC domain-containing protein 8", "gene_name": "JMJD8", "organism": "Human", "refseq_name": "jmjC domain-containing protein 8 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001310848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310848", "type": "external" } ], "gene_names_uniprotkb": "JMJD8; C16orf20; PP14397", "gene_names_refseq": "C16orf20; JMJD8; PP14397", "protein_names_uniprotkb": "JmjC domain-containing protein 8; Jumonji domain-containing protein 8", "protein_names_refseq": "jmjC domain-containing protein 8 isoform 3 precursor; jmjC domain-containing protein 8; jumonji domain-containing protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:339123)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;15498874;23481700;25418920;25576301;25645385;27199445;27600516;27671354;28063628;28218747;28832583;28834231;28855257;29133832;29242379;29393594;29508533;29557506;29632046;30315122;30410026;30429286;30484775;30620550;31217245;31473257;31844290;32157095;32265295;32387766;32502341;32879443;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33936100;33968037;34171305;34211107;34932366;35051231;35289036;35318648;35580925;35898493;36241641;36284347;37054705;37898375", "class_list": "", "function": "Aberrant JmjC domain-containing protein 8 (JMJD8) expression promotes activation of AKT and tumor epithelial-mesenchymal transition. Erratum:[Oncogene. 2021 Apr;40(17):3180-3186. doi: 10.1038/s41388-021-01643-6. PMID: 33772145], [RefSeq, PubMed]; ER-localized JmjC domain-containing protein JMJD8 targets STING to promote immune evasion and tumor growth in breast cancer., [RefSeq, PubMed]; Functions as a positive regulator of TNF-induced NF-kappa-B signaling (PubMed:27671354). Regulates angiogenesis and cellular metabolism through interaction with PKM (PubMed:27199445)., [UniProtKB, PubMed, PubMed]; JMJD8 Is an M2 Macrophage Biomarker, and It Associates With DNA Damage Repair to Facilitate Stemness Maintenance, Chemoresistance, and Immunosuppression in Pan-Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Jmjd8 is upregulated during endothelial differentiation and regulates endothelial sprouting and metabolism by interacting with pyruvate kinase M2., [RefSeq, PubMed]; The research provided data to establish the role of JMJD8 in regulating tumor cell proliferation and their sensitivity to ionizing irradiation or chemo-therapy drug, and the AKT/NF-kappaB/COX-2 signaling mediated expression of Ku70/Ku80 was involved., [RefSeq, PubMed]; USP22-JMJD8 axis promotes Lenvatinib resistance in hepatocellular carcinoma., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RNS7;D3DU58;Q4PKE3;Q4VBY1;Q6GMW5;Q71RB8", "ec_number_list": [], "go_molecular_function": "GO:0000987 cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:1903672 positive regulation of sprouting angiogenesis;GO:0006110 regulation of glycolytic process;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:1903302 regulation of pyruvate kinase activity", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q96S16-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BR39-1", "uniprot_id": [ { "id": "JPH2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BR39", "type": "external" } ], "mass": 74222.0, "length": 696, "protein_name": "Junctophilin-2", "gene_name": "JPH2", "organism": "Human", "refseq_name": "junctophilin-2 isoform 1", "refseq_ac": [ { "id": "NP_065166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065166", "type": "external" } ], "gene_names_uniprotkb": "JPH2; JP2", "gene_names_refseq": "CMD2E; CMH17; JP-2; JP2; JPH2", "protein_names_uniprotkb": "Junctophilin-2; JP-2; Junctophilin type 2", "protein_names_refseq": "junctophilin type 2; junctophilin-2 isoform 1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); dilated cardiomyopathy 2E (Disease Ontology:DOID:0081161); hypertrophic cardiomyopathy 17 (Disease Ontology:DOID:0110323); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984)", "pathway": " (hsa:57158)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10891348;17081983;17476457;17509612;18669648;18767875;19651622;19664994;20095964;23973696;24001019;24275569;27471098;27532831;28393127;29731959;30235249;30384889;31154438;31227780;32938616;33981976;34171305;34185709;34861382;34965474;35044787;35051231;35089322;35238659;39317111", "class_list": "", "function": "Editorial commentary: Genomic and precision medicine provides deeper insights into the genetic basis of diverse JPH2-mediated phenotypes., [RefSeq, PubMed]; Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]., [RefSeq]; Junctophilin-2 is a double-stranded RNA-binding protein that regulates cardiomyocyte-autonomous innate immune response., [RefSeq, PubMed]; Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence., [RefSeq, PubMed]; Membrane-binding protein that provides a structural bridge between the plasma membrane and the sarcoplasmic reticulum and is required for normal excitation-contraction coupling in cardiomyocytes (PubMed:20095964). Provides a structural foundation for functional cross-talk between the cell surface and intracellular Ca(2+) release channels by maintaining the 12-15 nm gap between the sarcolemma and the sarcoplasmic reticulum membranes in the cardiac dyads (By similarity). Necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release (By similarity). Contributes to the construction of skeletal muscle triad junctions (By similarity)., [UniProtKB, UniProtKB, PubMed]; One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2., [RefSeq, PubMed]; Structures of the junctophilin/voltage-gated calcium channel interface reveal hot spot for cardiomyopathy mutations., [RefSeq, PubMed]; This is the first report on JPH2 mutation associated with hypertrophic cardiomyopathy GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Transcription repressor required to safeguard against the deleterious effects of cardiac stress. Generated following cleavage of the Junctophilin-2 chain by calpain in response to cardiac stress in cardiomyocytes. Following cleavage and release from the membrane, translocates to the nucleus, binds DNA and represses expression of genes implicated in cell growth and differentiation, hypertrophy, inflammation and fibrosis. Modifies the transcription profile and thereby attenuates pathological remodeling in response to cardiac stress. Probably acts by competing with MEF2 transcription factors and TATA-binding proteins., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "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": "E1P5X1;O95913;Q5JY74;Q9UJN4", "ec_number_list": [], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0003677 DNA binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0030018 Z disc;GO:0014701 junctional sarcoplasmic reticulum membrane", "go_biological_process": "GO:0055024 regulation of cardiac muscle tissue development;GO:0006351 DNA-templated transcription;GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;GO:0060402 calcium ion transport into cytosol;GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9BR39-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0H3-1", "uniprot_id": [ { "id": "KLH25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0H3", "type": "external" } ], "mass": 65923.0, "length": 589, "protein_name": "Kelch-like protein 25", "gene_name": "KLHL25", "organism": "Human", "refseq_name": "kelch-like protein 25", "refseq_ac": [ { "id": "NP_071925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071925", "type": "external" } ], "gene_names_uniprotkb": "KLHL25; ENC2", "gene_names_refseq": "ENC-2; ENC2; KLHL25", "protein_names_uniprotkb": "Kelch-like protein 25; ENC-2; Ectoderm-neural cortex protein 2", "protein_names_refseq": "BTB/POZ KELCH domain protein; ectoderm-neural cortex protein 2; ectodermal-neural cortex 2; kelch-like 25; kelch-like protein 25", "tax_id": 9606, "disease": "", "pathway": " (hsa:64410); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 161, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11230166;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;18669648;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;22578813;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24366607;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;27664236;27846572;27920218;28115426;28218747;28832583;29153394;29393594;29437277;29632046;29786170;30315122;30484775;30610225;31154438;31844290;31848261;32005965;32161166;32284348;32357974;32502341;32897882;33298915;33392160;33444648;33537174;33912179;33936100;33968037;34171305;34491895;35051231;36010968;36215666;36241641;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "ACLY ubiquitination by CUL3-KLHL25 induces the reprogramming of fatty acid metabolism to facilitate iTreg differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; CUL3 interacts with ACLY through its adaptor protein, KLHL25 (Kelch-like family member 25), to ubiquitinate and degrade ACLY in cells, [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex involved in various processes, such as translation homeostasis and lipid synthesis (PubMed:22578813, PubMed:27664236, PubMed:34491895). The BCR(KLHL25) ubiquitin ligase complex acts by mediating ubiquitination of hypophosphorylated EIF4EBP1 (4E-BP1): ubiquitination and subsequent degradation of hypophosphorylated EIF4EBP1 (4E-BP1) probably serves as a homeostatic mechanism to maintain translation and prevent eIF4E inhibition when eIF4E levels are low (PubMed:22578813). The BCR(KLHL25) complex does not target EIF4EBP1 (4E-BP1) when it is hyperphosphorylated or associated with eIF4E (PubMed:22578813). The BCR(KLHL25) complex also acts as a regulator of lipid synthesis by mediating ubiquitination and degradation of ACLY, thereby inhibiting lipid synthesis (PubMed:27664236, PubMed:34491895). BCR(KLHL25)-mediated degradation of ACLY promotes fatty acid oxidation and is required for differentiation of inducible regulatory T (iTreg) cells (PubMed:34491895)., [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": 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": "B2RDH2;B3KRT7", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0032831 positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation;GO:0045717 negative regulation of fatty acid biosynthetic process;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0006446 regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "Q9H0H3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H511-1", "uniprot_id": [ { "id": "KLH31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H511", "type": "external" } ], "mass": 70246.0, "length": 634, "protein_name": "Kelch-like protein 31", "gene_name": "KLHL31", "organism": "Human", "refseq_name": "kelch-like protein 31", "refseq_ac": [ { "id": "NP_001003760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003760", "type": "external" } ], "gene_names_uniprotkb": "KLHL31; BKLHD6; KBTBD1; KLHL", "gene_names_refseq": "BKLHD6; KBTBD1; KLHL31; KLHL; bA345L23.2", "protein_names_uniprotkb": "Kelch-like protein 31; BTB and kelch domain-containing protein 6; Kelch repeat and BTB domain-containing protein 1; Kelch-like protein KLHL", "protein_names_refseq": "BTB and kelch domain-containing protein 6; kelch repeat and BTB (POZ) domain containing 1; kelch repeat and BTB domain-containing protein 1; kelch-like protein 31; kelch-like protein KLHL", "tax_id": 9606, "disease": "centronuclear myopathy (Disease Ontology:DOID:14717)", "pathway": " (hsa:401265)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "15302408;18719355;29393594;29557506;31844290;35051231;36010968", "class_list": "", "function": "These results suggest that KLHL31 protein may act as a new transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions., [RefSeq, PubMed]; Transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions. Overexpression inhibits the transcriptional activities of both the TPA-response element (TRE) and serum response element (SRE)., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6N9J2;B2RP49", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0001933 negative regulation of protein phosphorylation;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0046329 negative regulation of JNK cascade", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9H511-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQX7-1", "uniprot_id": [ { "id": "ITM2C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQX7", "type": "external" } ], "mass": 30224.0, "length": 267, "protein_name": "Integral membrane protein 2C", "gene_name": "ITM2C", "organism": "Human", "refseq_name": "integral membrane protein 2C isoform 3", "refseq_ac": [ { "id": "NP_001012532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012532", "type": "external" } ], "gene_names_uniprotkb": "ITM2C; BRI3; NPD018; PSEC0047; hucep-14", "gene_names_refseq": "BRI3; BRICD2C; E25C; E25; ITM2C; ITM3", "protein_names_uniprotkb": "Integral membrane protein 2C; Cerebral protein 14; Transmembrane protein BRI3", "protein_names_refseq": "BRICHOS domain containing 2C; cerebral protein 14; integral membrane protein 2C isoform 3; integral membrane protein 3; transmembrane protein BRI3", "tax_id": 9606, "disease": "", "pathway": " (hsa:81618)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "11230166;11237011;11290423;15606899;15777939;16303743;18292551;18452648;19114711;19366692;19851296;20198315;22299025;23481700;24366607;25418920;25502872;25576301;26154972;26375851;26929215;26992070;27397612;27600516;28218747;28228285;28467828;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29508533;29557506;29774024;29789417;30315122;30410026;30524438;30626607;30779550;31020640;31154438;31530632;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33298915;33392160;33537174;33592498;33912179;33936100;33968037;33981976;34171305;34185709;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35580925;36010968;36241641;37895185;37938771", "class_list": "", "function": "Negative regulator of amyloid-beta peptide production. May inhibit the processing of APP by blocking its access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Unlocking the Potential of the CA2, CA7, and ITM2C Gene Signatures for the Early Detection of Colorectal Cancer: A Comprehensive Analysis of RNA-Seq Data by Utilizing Machine Learning Algorithms. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 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": "B3KPG4;Q4G0A8;Q53H84;Q6IAE7;Q86VK5;Q8N288;Q8TAW0;Q9BUP8", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome;GO:0005764 lysosome", "go_biological_process": "GO:0010977 negative regulation of neuron projection development;GO:0042985 negative regulation of amyloid precursor protein biosynthetic process;GO:0030182 neuron differentiation;GO:2001238 positive regulation of extrinsic apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9NQX7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NSA2-1", "uniprot_id": [ { "id": "KCND1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NSA2", "type": "external" } ], "mass": 71330.0, "length": 647, "protein_name": "A-type voltage-gated potassium channel KCND1", "gene_name": "KCND1", "organism": "Human", "refseq_name": "A-type voltage-gated potassium channel KCND1", "refseq_ac": [ { "id": "NP_004970", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004970", "type": "external" } ], "gene_names_uniprotkb": "KCND1", "gene_names_refseq": "KCND1; KV4.1", "protein_names_uniprotkb": "A-type voltage-gated potassium channel KCND1; Potassium voltage-gated channel subfamily D member 1; Shal-type potassium channel KCND1; Voltage-gated potassium channel subunit Kv4.1", "protein_names_refseq": "A-type voltage-gated potassium channel KCND1; Shal-type potassium channel; potassium channel, voltage gated Shal related subfamily D, member 1; potassium voltage-gated channel, Shal-related subfamily, member 1; shal-type potassium channel KCND1; voltage-gated potassium channel subunit Kv4.1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3750); (R-HSA-1296072); (R-HSA-5576894)", "pathway_count": 3, "publication_count": 20, "publication_id_list": "10676964;10729221;11237011;11423117;12829703;14980207;15358149;15454437;17057713;17187064;20393197;21231794;24675763;25003238;29557506;32938616;33592498;34234278;35580925;38772379", "class_list": "", "function": "A-type voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes in the brain (PubMed:15454437). Mediates A-type current I(SA) in suprachiasmatic nucleus (SCN) neurons. Exhibits a low-threshold A-type current with a hyperpolarized steady-state inactivation midpoint and the recovery process was steeply voltage-dependent, with recovery being markedly faster at more negative potentials. May regulates repetitive firing rates in the suprachiasmatic nucleus (SCN) neurons and circadian rhythms in neuronal excitability and behavior. Contributes to the regulation of the circadian rhythm of action potential firing in suprachiasmatic nucleus neurons, which regulates the circadian rhythm of locomotor activity. The regulatory subunit KCNIP1 modulates the kinetics of channel inactivation, increases the current amplitudes and accelerates recovery from inactivation, shifts activation in a depolarizing direction (By similarity). The regulatory subunit DPP10 decreases the voltage sensitivity of the inactivation channel gating (PubMed:15454437)., [UniProtKB, UniProtKB, PubMed]; Calbindin regulates Kv4.1 trafficking and excitability in dentate granule cells via CaMKII-dependent phosphorylation., [RefSeq, PubMed]; Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity., [RefSeq, PubMed]; Reflected in the immunoblotting data KV4.1 receptors were detected at higher levels of expression in patient with cortical dysplasia with intractable epilepsy., [RefSeq, PubMed]; S-glutathionylation of an auxiliary subunit confers redox sensitivity to Kv4 channel inactivation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in a number of physiological processes, among them the regulation of neurotransmitter release, heart rate, insulin secretion, and smooth muscle contraction. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NEF1;B2RCG0;O75671", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005250 A-type (transient outward) potassium channel activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0043197 dendritic spine;GO:0045211 postsynaptic membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9NSA2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIX4-1", "uniprot_id": [ { "id": "KCNG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIX4", "type": "external" } ], "mass": 57913.0, "length": 513, "protein_name": "Voltage-gated potassium channel regulatory subunit KCNG1", "gene_name": "KCNG1", "organism": "Human", "refseq_name": "voltage-gated potassium channel regulatory subunit KCNG1", "refseq_ac": [ { "id": "NP_002228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002228", "type": "external" } ], "gene_names_uniprotkb": "KCNG1", "gene_names_refseq": "K13; KCNG1; KCNG; KV6.1; kH2", "protein_names_uniprotkb": "Voltage-gated potassium channel regulatory subunit KCNG1; Potassium voltage-gated channel subfamily G member 1; Voltage-gated potassium channel subunit Kv6.1; kH2", "protein_names_refseq": "potassium channel KH2; potassium channel Kv6.1; potassium channel, voltage gated modifier subfamily G, member 1; potassium voltage-gated channel, subfamily G, member 1; voltage-gated potassium channel regulatory subunit KCNG1; voltage-gated potassium channel subunit Kv6.1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3755); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "11237011;19074135;20393197;21231794;24715725;25576301;25645385;26992070;30779550;31154438;31844290;32157095;32387766;32938616;32983136;33392160;33592498;33981976;34171305;34185709;35051231;35318648;35580925;36010968;36241641;9434767", "class_list": "", "function": "Regulatory alpha-subunit of the voltage-gated potassium (Kv) channel which, when coassembled with KCNB1 or KCNB2, can modulate their expression and their gating kinetics by acting on deactivation upon repolarization and inactivation during maintained depolarization (PubMed:19074135). Potassium channel subunit that does not form functional channels by itself (PubMed:19074135)., [UniProtKB, PubMed]; Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "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": "A8K3S4;O43528;Q5JXL5;Q9BRC1", "ec_number_list": [], "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9UIX4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJ90-1", "uniprot_id": [ { "id": "KCNE5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJ90", "type": "external" } ], "mass": 14993.0, "length": 142, "protein_name": "Potassium voltage-gated channel subfamily E regulatory beta subunit 5", "gene_name": "KCNE5", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily E regulatory beta subunit 5", "refseq_ac": [ { "id": "NP_036414", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036414", "type": "external" } ], "gene_names_uniprotkb": "KCNE5; AMMECR2; KCNE1L", "gene_names_refseq": "KCNE1L; KCNE5", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily E regulatory beta subunit 5; AMME syndrome candidate gene 2 protein; Potassium channel subunit beta MiRP4; Potassium voltage-gated channel subfamily E member 1-like protein", "protein_names_refseq": "AMME syndrome candidate gene 2 protein; AMMECR2 protein; KCNE1-like; cardiac voltage-gated potassium channel accessory subunit 5; potassium channel subunit beta MiRP4; potassium voltage-gated channel subfamily E member 1-like protein; potassium voltage-gated channel subfamily E regulatory beta subunit 5; potassium voltage-gated channel, Isk-related family, member 1-like", "tax_id": 9606, "disease": "AMME complex (Disease Ontology:DOID:0111860)", "pathway": " (hsa:23630); (R-HSA-5576890); (R-HSA-5576893)", "pathway_count": 3, "publication_count": 23, "publication_id_list": "10219239;10493825;10646604;12011158;12324418;15193977;15266014;16054468;16939434;16949586;18093912;18313602;20533308;21493962;21985337;24591645;25966690;27147833;30129429;31154438;33936100;7586312;9230439", "class_list": "", "function": "Carriers of DSG2p.F531C showed various phenotypes. Publication Status: Online-Only, [RefSeq, PubMed]; Common single nucleotide polymorphism (SNP) from KCNE5, and ECG measurements and survival in postacute acute coronary syndrome patients, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1., [UniProtKB, PubMed]; This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes in potassium channel regulation, including ion selectivity, voltage dependence, and anterograde recycling from the plasma membrane. Variants of this gene are associated with idiopathic ventricular fibrillation and Brugada syndrome. [provided by RefSeq, Nov 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "Q5JWV7", "ec_number_list": [], "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;GO:1901380 negative regulation of potassium ion transmembrane transport;GO:0086011 membrane repolarization during action potential;GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential;GO:1903765 negative regulation of potassium ion export across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9UJ90-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJP4-1", "uniprot_id": [ { "id": "KLH21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJP4", "type": "external" } ], "mass": 66617.0, "length": 597, "protein_name": "Kelch-like protein 21", "gene_name": "KLHL21", "organism": "Human", "refseq_name": "kelch-like protein 21 isoform 1", "refseq_ac": [ { "id": "NP_055666", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055666", "type": "external" } ], "gene_names_uniprotkb": "KLHL21; KIAA0469", "gene_names_refseq": "KLHL21", "protein_names_uniprotkb": "Kelch-like protein 21", "protein_names_refseq": "kelch-like protein 21 isoform 1; kelch-like protein 21", "tax_id": 9606, "disease": "", "pathway": " (hsa:9903); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 199, "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;14528312;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16303743;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;19995937;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24714562;24793695;24793696;25314029;25349211;25355947;25418920;25505266;25531226;25645385;26154972;26344709;26375851;26460955;26632597;26906416;26929215;26992070;27030794;27222660;27387502;27565346;27600516;27769251;27862975;27920218;28115426;28218747;28228285;28832583;28834231;28904123;29153394;29242379;29393594;29437277;29493099;29557506;29574153;29786170;30315122;30410026;30429286;30524438;30610225;30779550;30833945;31154438;31222486;31530632;31844290;31848261;32005965;32157095;32284348;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33444648;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34509645;34561969;34932366;35051231;35580925;36010968;36215666;36241641;36284347;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Data clearly demonstrate that KLHL21 negatively regulates TNFalpha-activated NF-kappaB signaling via targeting IKKbeta, providing new insight into the mechanisms underlying NF-kappaB regulation in cells., [RefSeq, PubMed]; KLHL21 localizes to midzone microtubules in anaphase & recruits aurora B & Cul3 to this region; results suggest that different Cul3 adaptors nonredundantly regulate aurora B during mitosis, possibly by ubiquitinating different pools of aurora B, [RefSeq, PubMed]; KLHL21 plays an essential role in the tumorigenesis and progression of cholangiocarcinoma., [RefSeq, PubMed]; Our study suggests that KLHL21 is a potential target for therapeutic intervention. Our findings also provide novel candidate genes on a genome-wide scale, which may have significant impact on the design and execution of effective therapy of HCC patients. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for efficient chromosome alignment and cytokinesis. The BCR(KLHL21) E3 ubiquitin ligase complex regulates localization of the chromosomal passenger complex (CPC) from chromosomes to the spindle midzone in anaphase and mediates the ubiquitination of AURKB. Ubiquitination of AURKB by BCR(KLHL21) E3 ubiquitin ligase complex may not lead to its degradation by the proteasome., [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": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQP2;O75057;Q5SY26;Q5SY28;Q8N4I6;Q8NF10", "ec_number_list": [], "go_molecular_function": "GO:0097602 cullin family protein binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005827 polar microtubule;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0035853 chromosome passenger complex localization to spindle midzone;GO:0051301 cell division;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0032465 regulation of cytokinesis", "synthesized_glycan_count": 0, "hit_score": 20.0, "record_id": "Q9UJP4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y664-1", "uniprot_id": [ { "id": "KPTN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y664", "type": "external" } ], "mass": 48080.0, "length": 436, "protein_name": "KICSTOR complex protein kaptin", "gene_name": "KPTN", "organism": "Human", "refseq_name": "KICSTOR complex protein kaptin isoform 2", "refseq_ac": [ { "id": "NP_001278225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278225", "type": "external" } ], "gene_names_uniprotkb": "KPTN", "gene_names_refseq": "2E4; KICS4; KPTN; MRT41", "protein_names_uniprotkb": "KICSTOR complex protein kaptin; Actin-associated protein 2E4", "protein_names_refseq": "KICSTOR complex protein kaptin isoform 2; KICSTOR complex protein kaptin; actin-associated protein 2E4; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 41 (Disease Ontology:DOID:0081206)", "pathway": " (hsa:11133); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10099934;11237011;1372044;15854902;15878852;16098514;17470430;18497260;18604198;20381137;22053050;22575674;22980980;23481700;23723238;24081491;24095279;24239382;25259925;25263562;25418920;25457612;25561175;25567906;25576301;25819761;25880248;26375851;26449471;26586190;26811146;26972053;26992070;27308486;27487210;27600516;27648300;27920218;28066558;28199306;28199315;28832583;28834231;28904123;29053970;29056322;29123071;29236692;29242379;29393594;29632046;30061680;30181260;30315122;30651352;31844290;32157095;32265295;32357974;32358097;32387766;32502341;32808430;32897882;32938616;33298915;33691108;33968037;34171305;34932366;35051231;36010968;37311648;7499430", "class_list": "", "function": "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., [UniProtKB, PubMed]; Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment., [RefSeq, PubMed]; Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing. Publication Status: Online-Only, [RefSeq, PubMed]; Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability., [RefSeq, PubMed]; This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]., [RefSeq]; We have demonstrated that mutations in KPTN, encoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B3KN86;B4DQ76;Q96GT1", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0003779 actin binding", "go_cellular_component": "GO:0140007 KICSTOR complex;GO:0098978 glutamatergic synapse;GO:0098871 postsynaptic actin cytoskeleton;GO:0030027 lamellipodium;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0007015 actin filament organization;GO:0042149 cellular response to glucose starvation;GO:0034198 cellular response to amino acid starvation;GO:1904262 negative regulation of TORC1 signaling;GO:0061462 protein localization to lysosome", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9Y664-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0A0MT36-1", "uniprot_id": [ { "id": "KVD21_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0A0MT36", "type": "external" } ], "mass": 12340.0, "length": 114, "protein_name": "Immunoglobulin kappa variable 6D-21", "gene_name": "IGKV6D-21", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKV6D-21", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa variable 6D-21", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11549845;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 207, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0A0MT36-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0C4DH67-1", "uniprot_id": [ { "id": "KV108_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0C4DH67", "type": "external" } ], "mass": 12537.0, "length": 115, "protein_name": "Immunoglobulin kappa variable 1-8", "gene_name": "IGKV1-8", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKV1-8", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa variable 1-8", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11549845;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 389, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0C4DH67-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0C4DH72-1", "uniprot_id": [ { "id": "KV106_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0C4DH72", "type": "external" } ], "mass": 12697.0, "length": 117, "protein_name": "Immunoglobulin kappa variable 1-6", "gene_name": "IGKV1-6", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKV1-6", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa variable 1-6", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "11549845;17576170;20176268;22158414;24600447;32350084;34357683;36284347", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 358, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A0A0C4DH72-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NHZ5-1", "uniprot_id": [ { "id": "LR14B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NHZ5", "type": "external" } ], "mass": 56758.0, "length": 514, "protein_name": "Leucine-rich repeat-containing protein 14B", "gene_name": "LRRC14B", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 14B", "refseq_ac": [ { "id": "NP_001073947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073947", "type": "external" } ], "gene_names_uniprotkb": "LRRC14B", "gene_names_refseq": "LRRC14B", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 14B", "protein_names_refseq": "leucine-rich repeat-containing protein 14B", "tax_id": 9606, "disease": "", "pathway": " (hsa:389257)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "28510447;28832583;29242379;33141586;33592498;33936100;35051231;35580925;41350704", "class_list": "", "function": "The protein encoded by this gene is a leucine-rich repeat containing protein that is a member of the PRAME family. [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 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": 1.3, "record_id": "A6NHZ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NIK2-1", "uniprot_id": [ { "id": "LR10B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NIK2", "type": "external" } ], "mass": 32714.0, "length": 292, "protein_name": "Leucine-rich repeat-containing protein 10B", "gene_name": "LRRC10B", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 10B", "refseq_ac": [ { "id": "NP_001138549", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138549", "type": "external" } ], "gene_names_uniprotkb": "LRRC10B", "gene_names_refseq": "LRRC10B", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 10B", "protein_names_refseq": "LRRC10-like protein ENSP00000367315; leucine-rich repeat-containing protein 10B", "tax_id": 9606, "disease": "", "pathway": " (hsa:390205)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "27460542;29557506;31530632", "class_list": "", "function": "LRRC10B may be a downstream gene regulated by RPLP0P2, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 0.4, "record_id": "A6NIK2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6PVL3-1", "uniprot_id": [ { "id": "KNCN_HUMAN", "url": "https://www.uniprot.org/uniprot/A6PVL3", "type": "external" } ], "mass": 12832.0, "length": 124, "protein_name": "Kinocilin", "gene_name": "KNCN", "organism": "Human", "refseq_name": "kinocilin isoform 2", "refseq_ac": [ { "id": "NP_001091080", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091080", "type": "external" } ], "gene_names_uniprotkb": "KNCN", "gene_names_refseq": "KNCN; Kino; L5", "protein_names_uniprotkb": "Kinocilin", "protein_names_refseq": "kinocilin isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:148930)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "May play a role in stabilizing dense microtubular networks or in vesicular trafficking., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MXE3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0043025 neuronal cell body;GO:0016324 apical plasma membrane;GO:0036064 ciliary basal body;GO:0060091 kinocilium;GO:0032437 cuticular plate", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6PVL3-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MZ59-2", "uniprot_id": [ { "id": "LEUTX_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MZ59", "type": "external" } ], "mass": 22358.0, "length": 198, "protein_name": "Paired-like homeodomain transcription factor LEUTX", "gene_name": "LEUTX", "organism": "Human", "refseq_name": "paired-like homeodomain transcription factor LEUTX isoform 2", "refseq_ac": [ { "id": "NP_001137304", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137304", "type": "external" } ], "gene_names_uniprotkb": "LEUTX", "gene_names_refseq": "LEUTX", "protein_names_uniprotkb": "Paired-like homeodomain transcription factor LEUTX; Leucine-twenty homeobox; PRD-LIKE homeobox transcription factor LEUTX; Paired-like homeobox transcription factor LEUTX", "protein_names_refseq": "PRD-LIKE homeobox transcription factor LEUTX; arginine-fifty homeobox-like pseudogene; paired-like homeobox transcription factor LEUTX; paired-like homeodomain transcription factor LEUTX isoform 2; paired-like homeodomain transcription factor LEUTX; putative leucine-twenty homeobox", "tax_id": 9606, "disease": "", "pathway": " (hsa:342900); (R-HSA-9819196)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "17963489;22209328;23934149;24278031;26360614;26951377;27062923;27578796;28411811;28459456;28459457;30479355;31630170;34267371;35402882;36074823;37232378;38500181", "class_list": "", "function": "Inactive transcriptional activity., [UniProtKB, PubMed]; Molecular and clinicopathologic characteristics of CNS embryonal tumors with BRD4::LEUTX fusion. Publication Status: Online-Only, [RefSeq, PubMed]; Paired-like homeobox transcription factor involved in embryogenesis (PubMed:27578796, PubMed:30479355). May act as a regulator of embryo genome activation (PubMed:27578796). Binds to a 36 bp DNA elements containing a 5'-TAATCC-3' sequence motif, referred to as EEA motif (EGA-enriched Alu-motif), present in the promoters of target genes activated in early embryos (PubMed:27578796, PubMed:30479355)., [UniProtKB, PubMed, PubMed]; Rapid Evolution of the Embryonically Expressed Homeobox Gene LEUTX within Primates., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A0A1W2PQ33", "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:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "A8MZ59-2", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16873-1", "uniprot_id": [ { "id": "LTC4S_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16873", "type": "external" } ], "mass": 16567.0, "length": 150, "protein_name": "Leukotriene C4 synthase", "gene_name": "LTC4S", "organism": "Human", "refseq_name": "leukotriene C4 synthase", "refseq_ac": [ { "id": "NP_665874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_665874", "type": "external" } ], "gene_names_uniprotkb": "LTC4S", "gene_names_refseq": "LTC4S", "protein_names_uniprotkb": "Leukotriene C4 synthase; 2.5.1.-; 4.4.1.20; Glutathione S-transferase LTC4; LTC4 synthase; Leukotriene-C(4) synthase; Leukotriene-C4 synthase", "protein_names_refseq": "LTC4 synthase; glutathione S-transferase LTC4; leukotriene C4 synthase", "tax_id": 9606, "disease": "aspirin allergy (Disease Ontology:DOID:0040002); sinusitis (Disease Ontology:DOID:0050127); obstructive sleep apnea (Disease Ontology:DOID:0050848); exercise-induced bronchoconstriction (Disease Ontology:DOID:0080821); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); allergic disease (Disease Ontology:DOID:1205); urticaria (Disease Ontology:DOID:1555); intrahepatic cholestasis (Disease Ontology:DOID:1852); transient cerebral ischemia (Disease Ontology:DOID:224); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); cerebral infarction (Disease Ontology:DOID:3526); allergic rhinitis (Disease Ontology:DOID:4481); peripheral nervous system disease (Disease Ontology:DOID:574); periodontitis (Disease Ontology:DOID:824); allergic asthma (Disease Ontology:DOID:9415)", "pathway": " (hsa:4056); (R-HSA-2142688); (R-HSA-2142691); (R-HSA-2142700); (R-HSA-9026762); (R-HSA-9026766)", "pathway_count": 6, "publication_count": 80, "publication_id_list": "10064732;10549853;10779545;10837478;10896305;11115402;11237011;11844797;12023288;1359745;15604543;15772423;16795963;17632546;17632548;18184802;1848634;18647347;19082953;19233132;19743890;20436887;21447318;2155925;23076889;23409838;24366866;25324525;25713027;26881986;27046942;27365393;2753893;2768222;27791009;2836406;2864155;2866075;2877850;2882965;29133059;2995393;3006030;3020588;30669;3118366;3164719;32387766;32897882;32938616;34437574;35051231;35494241;35580925;3563417;3579953;36284347;3770188;3933675;6089195;6122208;6293969;6422933;6490615;6816802;7568157;7599836;7766706;7937884;8052639;8250832;8394361;8428933;8446623;8576264;8626689;8898379;9153254;9461497;9820300", "class_list": "", "function": "Biochemical and structural characterization of LTC4S mutants along with crystal structures of the wild type and mutated enzymes in complex with three product analogs, provide new insights to binding of substrates and product., [RefSeq, PubMed]; Catalyzes the conjugation of leukotriene A4 with reduced glutathione (GSH) to form leukotriene C4 with high specificity (PubMed:23409838, PubMed:27365393, PubMed:27791009, PubMed:7937884, PubMed:9153254). Can also catalyze the transfer of a glutathionyl group from glutathione (GSH) to 13(S),14(S)-epoxy-docosahexaenoic acid to form maresin conjugate in tissue regeneration 1 (MCTR1), a bioactive lipid mediator that possess potent anti-inflammatory and proresolving actions (PubMed:27791009)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Effect of TGF-beta1 on eosinophils to induce cysteinyl leukotriene E4 production in aspirin-exacerbated respiratory disease. Publication Status: Online-Only, [RefSeq, PubMed]; Mutational and kinetic data, together with molecular simulations, suggest that phosphorylation of Ser(36) inhibits the catalytic function of LTC4S by interference with the catalytic machinery., [RefSeq, PubMed]; The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family includes a number of human proteins, several of which are involved the production of leukotrienes. This gene encodes an enzyme that catalyzes the first step in the biosynthesis of cysteinyl leukotrienes, potent biological compounds derived from arachidonic acid. Leukotrienes have been implicated as mediators of anaphylaxis and inflammatory conditions such as human bronchial asthma. This protein localizes to the nuclear envelope and adjacent endoplasmic reticulum. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 16, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N6P0;Q9UC73;Q9UD18", "ec_number_list": [ { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" }, { "id": "2.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.-", "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": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" } ], "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0004464 leukotriene-C4 synthase activity;GO:0008047 enzyme activator activity;GO:0042802 identical protein binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0043231 intracellular membrane-bounded organelle", "go_biological_process": "GO:0006691 leukotriene metabolic process;GO:0019370 leukotriene biosynthetic process;GO:0042759 long-chain fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q16873-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P9F7-1", "uniprot_id": [ { "id": "LRC8B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P9F7", "type": "external" } ], "mass": 92390.0, "length": 803, "protein_name": "Volume-regulated anion channel subunit LRRC8B", "gene_name": "LRRC8B", "organism": "Human", "refseq_name": "volume-regulated anion channel subunit LRRC8B", "refseq_ac": [ { "id": "NP_001127948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127948", "type": "external" } ], "gene_names_uniprotkb": "LRRC8B; KIAA0231; PRO21207", "gene_names_refseq": "LRRC8B; TA-LRRP; TALRRP", "protein_names_uniprotkb": "Volume-regulated anion channel subunit LRRC8B; Leucine-rich repeat-containing protein 8B; T-cell activation leucine repeat-rich protein; TA-LRRP", "protein_names_refseq": "T-cell activation leucine repeat-rich protein; epididymis secretory sperm binding protein; leucine rich repeat containing 8 family member B; leucine-rich repeat-containing protein 8B; volume-regulated anion channel subunit LRRC8B", "tax_id": 9606, "disease": "", "pathway": " (hsa:23507); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10571941;11237011;11326272;11326338;11401429;12297987;12297989;12951058;12975309;13130483;14984739;15094057;15804357;17166836;18057121;18347014;1840603;18930737;19262752;1955075;19717468;22119785;22532330;22649030;23169667;24190977;24725410;24790029;25892735;26620797;26635246;26824658;26992070;27102039;27600516;27920218;28193731;28514659;28904123;28972132;29393594;29557506;29769354;31092671;31154438;31844290;32161166;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33633747;33912179;33968037;33981976;34185709;34357683;34509645;34932366;35051231;35251023;35580925;36010968;36215666;36241641;4018271;7615546;7619062;7749638;9114041;9537412", "class_list": "", "function": "Identified four genes, named TA-LRRP, AD158, LRRC5, and FLJ23420, as unknown LRRC8-like genes, [RefSeq, PubMed]; LRRC8B participates in intracellular Ca(2+) homeostasis by acting as a leak channel in the endoplasmic reticulum. Erratum:[J Cell Sci. 2018 Jan 4;131(1):jcs213447. doi: 10.1242/jcs.213447. PMID: 29301942], [RefSeq, PubMed]; Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731)., [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": 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": 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": "D3DT28;Q6UY21;Q8N106;Q92627", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0098656 monoatomic anion transmembrane transport;GO:0015810 aspartate transmembrane transport;GO:0140361 cyclic-GMP-AMP transmembrane import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q6P9F7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "D3W0D1-1", "uniprot_id": [ { "id": "KLRF2_HUMAN", "url": "https://www.uniprot.org/uniprot/D3W0D1", "type": "external" } ], "mass": 24008.0, "length": 207, "protein_name": "Killer cell lectin-like receptor subfamily F member 2", "gene_name": "KLRF2", "organism": "Human", "refseq_name": "killer cell lectin-like receptor subfamily F member 2", "refseq_ac": [ { "id": "NP_001177694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177694", "type": "external" } ], "gene_names_uniprotkb": "KLRF2", "gene_names_refseq": "KLRF2; NKp65", "protein_names_uniprotkb": "Killer cell lectin-like receptor subfamily F member 2; Activating coreceptor NKp65; Lectin-like receptor F2", "protein_names_refseq": "activating coreceptor NKp65; killer cell lectin-like receptor subfamily F member 2; killer cell lectin-like receptor subfamily F, member 2; lectin-like receptor F2", "tax_id": 9606, "disease": "", "pathway": " (hsa:100431172)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "20194751;23803857;24715725;25510854;28082678;34357683;38072999", "class_list": "", "function": "C-type lectin-like receptor involved in natural killer cell mediated cytotoxicity and cytokine secretion in keratinocytes via its interaction with CLEC2A (PubMed:20194751, PubMed:25510854). Triggers degranulation in a SYK-dependent manner and stimulates SYK phosphotyrosinylation without recruiting SYK directly (PubMed:28082678)., [UniProtKB, PubMed, PubMed]; Keratinocytes express KACL and are capable of stimulating NKp65-expressing cells in a KACL-dependent manner., [RefSeq, PubMed]; Key residues at the membrane-distal surface of KACL, but not glycosylation, determine the functional interaction of the keratinocyte-specific C-type lectin-like receptor KACL with its high-affinity receptor NKp65, [RefSeq, PubMed]; NKp65 utilizes a hemi-immunoreceptor tyrosine-based activation motif -like motif for cellular activation that requires Syk, although Syk appears not to be recruited to NKp65., [RefSeq, PubMed]; Structure explains the exceptionally high affinity of the NKp65-KACL interaction compared with other cell-cell interaction pairs, which may compensate for the monomeric nature of NKp65 to achieve cell activation, [RefSeq, PubMed]; The activating receptor NKp65 is selectively expressed by human ILC3 and demarcates ILC3 from mature NK cells., [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": 1, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0001819 positive regulation of cytokine production;GO:0043320 natural killer cell degranulation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "D3W0D1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95237-1", "uniprot_id": [ { "id": "LRAT_HUMAN", "url": "https://www.uniprot.org/uniprot/O95237", "type": "external" } ], "mass": 25703.0, "length": 230, "protein_name": "Lecithin retinol acyltransferase", "gene_name": "LRAT", "organism": "Human", "refseq_name": "lecithin retinol acyltransferase precursor", "refseq_ac": [ { "id": "NP_001288574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288574", "type": "external" } ], "gene_names_uniprotkb": "LRAT", "gene_names_refseq": "LCA14; LRAT", "protein_names_uniprotkb": "Lecithin retinol acyltransferase; 2.3.1.135; Phosphatidylcholine--retinol O-acyltransferase", "protein_names_refseq": "lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase); lecithin retinol acyltransferase precursor", "tax_id": 9606, "disease": "Leber congenital amaurosis 14 (Disease Ontology:DOID:0110188); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:9227); (R-HSA-2453902); (R-HSA-975634); (R-HSA-9918442)", "pathway_count": 4, "publication_count": 82, "publication_id_list": "10052934;10075733;10617778;10753906;10769148;10819989;11060341;11123914;11181758;11237011;11274389;11381255;12036956;12177057;12407145;1279089;15314061;15358783;1542003;15471866;15474300;15583000;15865448;16200213;16939223;17011878;17255476;17525477;17644776;18055821;18087047;18295589;18460466;18507396;18544127;1856611;19014918;19049981;19139408;1925597;19309693;20006823;20192770;21106934;21493626;21774515;21851338;22665496;2303470;24106281;2542268;25645385;2793848;3170584;33968037;35580925;3714052;3942763;4345202;5057882;5315589;5675424;6288450;6342691;6420172;6512705;6589631;6679757;6961410;7683668;7929238;8017323;8105993;8384721;8728311;8884265;9490294;9541407;9703434;9888420;9920938;9925661", "class_list": "", "function": "Results provide evidence that multiple LRAT mRNA transcripts, which are expressed in a tissue-specific manner, may result from differential splicing of the 5'UTR region and the use of multiple polyadenylation signals in the 3'UTR., [RefSeq, PubMed]; The phenotype of patients with mutations in LRAT is similar to that of patients with mutations in RPE65, suggesting the need to systematically screen both genes in case of typical phenotype., [RefSeq, PubMed]; The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]., [RefSeq]; Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters (PubMed:9920938). Retinyl esters are storage forms of vitamin A (Probable). LRAT plays a critical role in vision (Probable). It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments (Probable). Required for the survival of cone photoreceptors and correct rod photoreceptor cell morphology (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": 0, "reported_mutagensis": 6, "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": "A8K983;Q8N716", "ec_number_list": [ { "id": "2.3.1.135", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.135", "type": "external" } ], "go_molecular_function": "GO:0016416 O-palmitoyltransferase activity;GO:0047173 phosphatidylcholine-retinol O-acyltransferase activity;GO:0019841 retinol binding;GO:0016746 acyltransferase activity;GO:0001972 retinoic acid binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005791 rough endoplasmic reticulum;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane;GO:0005771 multivesicular body", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0042572 retinol metabolic process;GO:0007601 visual perception;GO:0032526 response to retinoic acid;GO:0006776 vitamin A metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "O95237-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HC24-1", "uniprot_id": [ { "id": "LFG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HC24", "type": "external" } ], "mass": 26971.0, "length": 238, "protein_name": "Protein lifeguard 4", "gene_name": "TMBIM4", "organism": "Human", "refseq_name": "protein lifeguard 4 isoform a", "refseq_ac": [ { "id": "NP_001269535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269535", "type": "external" } ], "gene_names_uniprotkb": "TMBIM4; CGI-119; GAAP; LFG4", "gene_names_refseq": "CGI-119; GAAP; LFG4; S1R; TMBIM4; ZPRO", "protein_names_uniprotkb": "Protein lifeguard 4; Golgi anti-apoptotic protein; Protein S1R; Transmembrane BAX inhibitor motif-containing protein 4; Z-protein", "protein_names_refseq": "Golgi anti-apoptotic protein; Z-protein; protein lifeguard 4 isoform a; protein lifeguard 4; transmembrane BAX inhibitor motif-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:51643)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "10931946;11237011;16303743;17319741;18440869;19553469;19784873;22418439;23000903;23508950;23940116;24397554;25764978;26811146;26992070;27846572;28218747;28469007;28904123;29242379;29437277;29493099;29557506;29786170;30315122;30429286;30779550;31154438;31530632;31693977;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33968037;34185709;34509645;34932366;35051231;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "Anti-apoptotic protein which can inhibit apoptosis induced by intrinsic and extrinsic apoptotic stimuli. Can modulate both capacitative Ca2+ entry and inositol 1,4,5-trisphosphate (IP3)-mediated Ca2+ release., [UniProtKB, PubMed, PubMed]; Data demonstrate that h-GAAP modulates intracellular Ca(2+) fluxes induced by both physiological and apoptotic stimuli., [RefSeq, PubMed]; Data indicate that GAAP and BI-1 have a six membrane-spanning topology with cytosolic N and C termini and a C-terminal reentrant loop., [RefSeq, PubMed]; GAAP can oligomerize in a pH-regulated manner, and monomeric GAAP is functional., [RefSeq, PubMed]; Residues contributing to the ion-conducting pore have been defined and provide the first clues about the mechanistic link between these very different functions of golgi anti-apoptotic protein (GAAP) [review]. Review article, [RefSeq, PubMed]; Stable expression of both viral GAAP (v-GAAP) and human GAAP (h-GAAP), which is expressed in all human tissues tested, inhibited apoptosis induced by intrinsic and extrinsic apoptotic stimuli, [RefSeq, PubMed]; Stimulation of cell invasion by the Golgi Ion Channel GAAP/TMBIM4 via an H2O2-Dependent Mechanism., [RefSeq, PubMed]; Taken together, the proposed interaction between Chlamydia pneumoniae protein CPn0809 and GAAP modulates bacterial growth in A549 cells., [RefSeq, PubMed]; The hGAAP is a novel regulator of focal adhesion dynamics, cell adhesion, and migration by controlling localized Ca(2+)-dependent activation of calpain., [RefSeq, PubMed]; The tmbim4 may participate in cell death regulation by interacting with proteins of Bcl-2 family, promoting tumor metastasis, which is deduced from the evolutionary conservation of the membrane protein family containing multiple membrane spanning segments, [RefSeq, PubMed]; These results suggest that the TMBIM family has comparable functions in the maintenance of intracellular Ca(2) homeostasis in a wide variety of tissues, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q542Z6;Q9UHY5;Q9Y3C2", "ec_number_list": [], "go_molecular_function": "GO:0005262 calcium channel activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005795 Golgi stack", "go_biological_process": "GO:0007626 locomotory behavior;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0043524 negative regulation of neuron apoptotic process;GO:0030968 endoplasmic reticulum unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9HC24-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR64-1", "uniprot_id": [ { "id": "KLHL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR64", "type": "external" } ], "mass": 82680.0, "length": 748, "protein_name": "Kelch-like protein 1", "gene_name": "KLHL1", "organism": "Human", "refseq_name": "kelch-like protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001273654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273654", "type": "external" } ], "gene_names_uniprotkb": "KLHL1; KIAA1490", "gene_names_refseq": "KLHL1; MRP2", "protein_names_uniprotkb": "Kelch-like protein 1", "protein_names_refseq": "Kelch-like protein 1; Mayven-related protein 2; kelch-like protein 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57626)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10888605;11237011;16982692;17289272;18708037;20147652;29557506;30379171;32357974;32740585;33141586;33592498;33968037;34087483;35051231;35561310;35580925;37938771", "class_list": "", "function": "Genetic Risk of Trigger Finger: Results of a Genomewide Association Study., [RefSeq, PubMed]; KLHL1 interacts with Cav3.2 and modulates T-type calcium currents by increasing current deactivation kinetics and current density and calcium influx., [RefSeq, PubMed]; KLHL1 was expressed in human brain and kidney, but was also in other tissues, such as prostate gland, small intestine, colon, testis (but not the ovaries), liver and pancreas., [RefSeq, PubMed]; May play a role in organizing the actin cytoskeleton of the brain cells., [UniProtKB]; Modulatory effect of KLHL1 on the P/Q-type calcium channel function, suggesting a possible novel role for KLHL1 in cellular excitability., [RefSeq, PubMed]; The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]., [RefSeq]; This study provides, for the first time, insights into the involvement of MRP2 in neurite outgrowth, which occurs in a GSK3beta-dependent manner., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K5X0;Q5VZ64;Q9H4X4;Q9NR65;Q9P238", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0030425 dendrite;GO:0043025 neuronal cell body;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0016358 dendrite development;GO:0030036 actin cytoskeleton organization;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9NR64-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NI6-1", "uniprot_id": [ { "id": "LRFN5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NI6", "type": "external" } ], "mass": 79445.0, "length": 719, "protein_name": "Leucine-rich repeat and fibronectin type-III domain-containing protein 5", "gene_name": "LRFN5", "organism": "Human", "refseq_name": "leucine-rich repeat and fibronectin type-III domain-containing protein 5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001333102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333102", "type": "external" } ], "gene_names_uniprotkb": "LRFN5; C14orf146; SALM5", "gene_names_refseq": "C14orf146; FIGLER8; LRFN5; SALM5", "protein_names_uniprotkb": "Leucine-rich repeat and fibronectin type-III domain-containing protein 5", "protein_names_refseq": "fibronectin type III, immunoglobulin and leucine rich repeat domains 8; leucine-rich repeat and fibronectin type-III domain-containing protein 5 isoform 1 precursor; leucine-rich repeat and fibronectin type-III domain-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:145581)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16630835;18227064;18585462;20410109;21736948;28514659;31154438;31748543;31844290;35051231;35088940;35580925;36010968;36266731;37280213", "class_list": "", "function": "Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; CircLRFN5 inhibits the progression of glioblastoma via PRRX2/GCH1 mediated ferroptosis. Erratum:[J Exp Clin Cancer Res. 2022 Nov 10;41(1):320. doi: 10.1186/s13046-022-02527-7. PMID: 36352462] Publication Status: Online-Only, [RefSeq, PubMed]; Expression of SALM family proteins SALM3 and SALM5 in nonneural and neural cells induces both excitatory and inhibitory presynaptic differentiation in contacting axons., [RefSeq, PubMed]; Identification of novel common variants associated with chronic pain using conditional false discovery rate analysis with major depressive disorder and assessment of pleiotropic effects of LRFN5. Publication Status: Online-Only, [RefSeq, PubMed]; LRFN5 and OLFM4 as novel potential biomarkers for major depressive disorder: a pilot study. Publication Status: Online-Only, [RefSeq, PubMed]; LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions., [RefSeq, PubMed]; SALM5/Lrfn5, has recently been implicated in severe progressive autism and familial schizophrenia, pointing to the clinical importance of SALMs.[review] Review article, [RefSeq, PubMed]; This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 68, "reported_interactions": 0, "missing_score": 9876, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B3KU78;Q86XL2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0009986 cell surface;GO:0098839 postsynaptic density membrane;GO:0016020 membrane", "go_biological_process": "GO:0050728 negative regulation of inflammatory response;GO:0043031 negative regulation of macrophage activation;GO:0099560 synaptic membrane adhesion;GO:1905606 regulation of presynapse assembly", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96NI6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q52LA3-1", "uniprot_id": [ { "id": "LIN52_HUMAN", "url": "https://www.uniprot.org/uniprot/Q52LA3", "type": "external" } ], "mass": 12498.0, "length": 112, "protein_name": "Protein lin-52 homolog", "gene_name": "LIN52", "organism": "Human", "refseq_name": "protein lin-52 homolog isoform 1", "refseq_ac": [ { "id": "NP_001019845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019845", "type": "external" } ], "gene_names_uniprotkb": "LIN52; C14orf46", "gene_names_refseq": "C14orf46; LIN52; c14_5549", "protein_names_uniprotkb": "Protein lin-52 homolog", "protein_names_refseq": "protein lin-52 homolog isoform 1; protein lin-52 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:91750); (R-HSA-1362277); (R-HSA-1362300); (R-HSA-1538133); (R-HSA-156711); (R-HSA-69202); (R-HSA-69205); (R-HSA-69656)", "pathway_count": 8, "publication_count": 57, "publication_id_list": "10228158;10323868;10375532;10454565;10454584;10597240;10692433;11231585;11237011;11585773;11897663;11907280;11959842;11988738;12730199;12738781;12782299;1312467;1396589;14990995;15014447;15037762;15070733;15510213;15654331;16582612;17531812;17671431;19160488;20068231;21498570;22391450;23109430;23186163;23240008;24275569;7623816;7629134;7743995;7799941;7929342;8050359;8114698;8288595;8618861;8700224;8703070;8943353;9020173;9199292;9482921;9520412;9632134;9662327;9724731;9778043;9891042", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B3KN83", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0070176 DRM complex;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "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": 5.8, "record_id": "Q52LA3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FV0-1", "uniprot_id": [ { "id": "LRC46_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FV0", "type": "external" } ], "mass": 35340.0, "length": 321, "protein_name": "Leucine-rich repeat-containing protein 46", "gene_name": "LRRC46", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 46", "refseq_ac": [ { "id": "NP_219481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_219481", "type": "external" } ], "gene_names_uniprotkb": "LRRC46", "gene_names_refseq": "LRRC46", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 46", "protein_names_refseq": "leucine-rich repeat-containing protein 46", "tax_id": 9606, "disease": "", "pathway": " (hsa:90506)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;23481700;26154972;28904123;29242379;29557506;30315122;31844290;33936100;33968037;35051231;38253038;38874710;39894887", "class_list": "", "function": "Identification of LRRC46 as a novel candidate gene for high myopia., [RefSeq, PubMed]; Required for normal spermatogenesis and male fertility. Plays an important role in sperm flagellum 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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "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": "A8K9Q0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0097225 sperm midpiece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0120316 sperm flagellum assembly", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q96FV0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00370-1", "uniprot_id": [ { "id": "LORF2_HUMAN", "url": "https://www.uniprot.org/uniprot/O00370", "type": "external" } ], "mass": 149012.0, "length": 1275, "protein_name": "LINE-1 retrotransposable element ORF2 protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "LINE-1 retrotransposable element ORF2 protein; ORF2p", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 31, "publication_id_list": "15274918;17626046;24251107;26811146;26992070;27862975;29557506;30429286;31844290;32157095;32265295;32357974;32561536;32897882;32938616;33592498;33691108;34019948;34554261;34932366;35051231;35580925;35760782;36010968;36639728;38096901;38096902;38253038;7516468;8945517;9140393", "class_list": "", "function": "Has reverse transcriptase activity required for target-primed reverse transcription of the LINE-1 element mRNA, a crucial step in LINE-1 retrotransposition (PubMed:38096901, PubMed:38096902, PubMed:7516468, PubMed:9140393). Selectively binds and reversely transcribes RNA with a poly(A) tail consisting of at least 20 adenosines (PubMed:38096901). Also has endonuclease activity that allows the introduction of nicks in the chromosomal target DNA (PubMed:17626046, PubMed:34554261, PubMed:38096901, PubMed:38096902, PubMed:8945517). Cleaves DNA in AT-rich regions between a 5' stretch of purines and a 3' stretch of pyrimidines, corresponding to the sites of LINE-1 integration in the genome (PubMed:8945517). Conformational properties of the target DNA sequence rather than specific nucleotides are key determinants of the ORF2p capacity for sequence-specific DNA recognition (PubMed:17626046, PubMed:34554261). Unlike related endonucleases, does not bend the DNA helix but causes compression near the cleavage site (PubMed:34554261)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 17, "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": "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:0003964 RNA-directed DNA polymerase activity;GO:0009036 type II site-specific deoxyribonuclease activity;GO:0003723 RNA binding;GO:0046872 metal ion binding", "go_cellular_component": "", "go_biological_process": "GO:0032197 retrotransposition;GO:0006310 DNA recombination;GO:0090304 nucleic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "O00370-1", "record_type": "protein", "filter_code": "0000000.0100100.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15165-1", "uniprot_id": [ { "id": "LRAD4_HUMAN", "url": "https://www.uniprot.org/uniprot/O15165", "type": "external" } ], "mass": 33900.0, "length": 306, "protein_name": "Low-density lipoprotein receptor class A domain-containing protein 4", "gene_name": "LDLRAD4", "organism": "Human", "refseq_name": "low-density lipoprotein receptor class A domain-containing protein 4 isoform gamma 1", "refseq_ac": [ { "id": "NP_001003674", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003674", "type": "external" } ], "gene_names_uniprotkb": "LDLRAD4; C18orf1", "gene_names_refseq": "C18orf1; LDLRAD4", "protein_names_uniprotkb": "Low-density lipoprotein receptor class A domain-containing protein 4", "protein_names_refseq": "clone 22; low-density lipoprotein receptor class A domain-containing protein 4 isoform gamma 1; low-density lipoprotein receptor class A domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:753)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;19461657;23481700;24627487;26811146;26992070;28467828;29242379;29393594;31020640;31848261;32357974;32502341;32507364;33298915;34357683;35154160;9479497", "class_list": "", "function": "Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression. In the canonical TGF-beta pathway, ZFYVE9/SARA recruits the intracellular signal transducer and transcriptional modulators SMAD2 and SMAD3 to the TGF-beta receptor. Phosphorylated by the receptor, SMAD2 and SMAD3 then form a heteromeric complex with SMAD4 that translocates to the nucleus to regulate transcription. Through interaction with SMAD2 and SMAD3, LDLRAD4 may compete with ZFYVE9 and SMAD4 and prevent propagation of the intracellular signal., [UniProtKB, PubMed]; Identification of low-density lipoprotein receptor class A domain containing 4 (LDLRAD4) as a prognostic indicator in primary gastrointestinal stromal 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B3KNT9;E9PAY9;K7EN38;O15166;O15167;O15168;Q5U646;Q6NXP3", "ec_number_list": [], "go_molecular_function": "GO:0070412 R-SMAD binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0030336 negative regulation of cell migration;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway;GO:0010719 negative regulation of epithelial to mesenchymal transition;GO:0060392 negative regulation of SMAD protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "O15165-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94898-1", "uniprot_id": [ { "id": "LRIG2_HUMAN", "url": "https://www.uniprot.org/uniprot/O94898", "type": "external" } ], "mass": 118965.0, "length": 1065, "protein_name": "Leucine-rich repeats and immunoglobulin-like domains protein 2", "gene_name": "LRIG2", "organism": "Human", "refseq_name": "leucine-rich repeats and immunoglobulin-like domains protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001299615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299615", "type": "external" } ], "gene_names_uniprotkb": "LRIG2; KIAA0806; LIG2", "gene_names_refseq": "LIG-2; LIG2; LRIG2; UFS2", "protein_names_uniprotkb": "Leucine-rich repeats and immunoglobulin-like domains protein 2; LIG-2", "protein_names_refseq": "leucine-rich repeats and immunoglobulin-like domains protein 2 isoform 2; leucine-rich repeats and immunoglobulin-like domains protein 2", "tax_id": 9606, "disease": "urofacial syndrome (Disease Ontology:DOID:0050816)", "pathway": " (hsa:9860)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10.1101/2023.09.13.557529;15145052;18037903;23313374;24190977;25418920;25645385;25892735;26154972;26811146;26929215;26992070;27846572;27920218;28218747;28228285;28467828;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29632711;29769354;30315122;30379171;30429286;30573663;30779550;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32938616;33298915;33392160;33469151;33592498;33717175;33912179;33968037;33981976;34357683;34561969;34839782;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36183058;36241641;37074911;37938771;38191889", "class_list": "", "function": "A SINE-VNTR-Alu at the LRIG2 locus is associated with proximal and distal gene expression in CRISPR and population models. Publication Status: Online-Only, [RefSeq, PubMed]; A subset of urofacial syndrome-affected individuals have biallelic mutations in LRIG2, [RefSeq, PubMed]; LRIG proteins may have a role in epidermal homeostasis and psoriasis, [RefSeq, PubMed]; LRIG proteins regulate lipid metabolism via BMP signaling and affect the risk of type 2 diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; LRIG2 regulates cell proliferation, migration and apoptosis of osteosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; LRIG2 was found to be a glycoprotein with an molecular weight of 132 kDa, which was encoded by a gene on human chromosome 1p13 and its mRNA was present in all tissues analyzed., [RefSeq, PubMed]; Prognostic significance of LRIG2 and LRIG3 proteins in urothelial bladder carcinoma., [RefSeq, PubMed]; This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]., [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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 54, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q9NSN2", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0097708 intracellular vesicle;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030426 growth cone", "go_biological_process": "GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "O94898-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01597-1", "uniprot_id": [ { "id": "KV139_HUMAN", "url": "https://www.uniprot.org/uniprot/P01597", "type": "external" } ], "mass": 12737.0, "length": 117, "protein_name": "Immunoglobulin kappa variable 1-39", "gene_name": "IGKV1-39", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKV1-39", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa variable 1-39; Ig kappa chain V-I region DEE; Ig kappa chain V-I region Hau; Ig kappa chain V-I region Mev; Ig kappa chain V-I region OU; Ig kappa chain V-I region Walker", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 541, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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"class_list": "immunoglobin", "function": "V segment of the variable domain of immunoglobulins light chain that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 619, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P01625;P06313;P06314;P83593", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0072562 blood microparticle;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 54.5, "record_id": "P06312-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C6S8-1", "uniprot_id": [ { "id": "LIGO3_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C6S8", "type": "external" } ], "mass": 64881.0, "length": 592, "protein_name": "Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3", "gene_name": "LINGO3", "organism": "Human", "refseq_name": "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 precursor", "refseq_ac": [ { "id": "NP_001094861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094861", "type": "external" } ], "gene_names_uniprotkb": "LINGO3; LERN2; LRRN6B", "gene_names_refseq": "LERN2; LINGO3; LRRN6B", "protein_names_uniprotkb": "Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3; Leucine-rich repeat neuronal protein 2; Leucine-rich repeat neuronal protein 6B", "protein_names_refseq": "leucine rich repeat neuronal 6B; leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 precursor; leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3; leucine-rich repeat neuronal protein 2; leucine-rich repeat neuronal protein 6B", "tax_id": 9606, "disease": "", "pathway": " (hsa:645191)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10.1101/2023.09.13.557529;14686891;26853435;33392160;33941035;36010968", "class_list": "", "function": "LINGO3 regulates mucosal tissue regeneration and promotes TFF2 dependent recovery from colitis., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 4, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P0C6S8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50748-1", "uniprot_id": [ { "id": "KNTC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P50748", "type": "external" } ], "mass": 250749.0, "length": 2209, "protein_name": "Kinetochore-associated protein 1", "gene_name": "KNTC1", "organism": "Human", "refseq_name": "kinetochore-associated protein 1", "refseq_ac": [ { "id": "NP_055523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055523", "type": "external" } ], "gene_names_uniprotkb": "KNTC1; KIAA0166; ROD", "gene_names_refseq": "KNTC1; ROD", "protein_names_uniprotkb": "Kinetochore-associated protein 1; HsROD; Rod; Rough deal homolog; hRod", "protein_names_refseq": "Rough Deal homolog, centromere/kinetochore protein; kinetochore-associated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9735); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 8, "publication_count": 163, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11146660;11181178;11237011;11371342;11509732;11535616;11590237;11804586;12006501;12194817;12429848;12577064;12679384;12686595;12732141;12805219;12852857;14730319;15006353;15085137;15339662;15507212;15723797;15737063;15824131;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;1737036;17924679;18001770;18065224;18097444;18452278;18716626;18923426;19350017;19608861;19696148;19815554;19965387;20030946;20068231;20101212;20462495;20591975;21111234;21148482;21397845;21576392;21868368;21878504;21987589;22094460;22275430;22424782;22608513;22790947;22885700;22898188;23186163;23222643;23481700;23801653;24715725;24914801;25418920;25576301;25645385;25740311;25789526;26154972;26375851;26992070;27846572;27920218;28063628;28218747;28228285;28441529;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30524438;31217245;31409757;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34171305;34211107;34260926;34405274;34509645;34561969;34932366;35051231;35154160;35494241;35580925;35933405;36010968;36115009;36215666;36241641;36273753;37217939;37230198;38818892;39534244;9649308;9649503;9892021", "class_list": "", "function": "Aurora B kinase activity is required for the accumulation of tension-sensitive mitotic-checkpoint components, such as ZW10 and ROD, in order to maintain mitotic-checkpoint arrest., [RefSeq, PubMed]; Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores (PubMed:11146660, PubMed:11590237, PubMed:15824131). Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex., [UniProtKB, PubMed, PubMed, PubMed]; KNTC1 knockdown inhibits the proliferation and migration of osteosarcoma cells by MCM2., [RefSeq, PubMed]; ShRNAmediated knockdown of KNTC1 inhibits non-small-cell lung cancer through regulating PSMB8. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing of KNTC1 inhibits hepatocellular carcinoma cells progression via suppressing PI3K/Akt pathway., [RefSeq, PubMed]; The infertile individual analysis based on whole-exome sequencing in chinese multi-ethnic groups., [RefSeq, PubMed]; The role of KNTC1 in the regulation of proliferation, migration and tumorigenesis in colorectal cancer., [RefSeq, PubMed]; This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A7E2C4;B3KSG2", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005828 kinetochore microtubule;GO:1990423 RZZ complex;GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:1903394 protein localization to kinetochore involved in kinetochore assembly;GO:0051301 cell division;GO:0007094 mitotic spindle assembly checkpoint signaling;GO:0051988 regulation of attachment of spindle microtubules to kinetochore;GO:0007096 regulation of exit from mitosis", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "P50748-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50851-1", "uniprot_id": [ { "id": "LRBA_HUMAN", "url": "https://www.uniprot.org/uniprot/P50851", "type": "external" } ], "mass": 319108.0, "length": 2863, "protein_name": "Lipopolysaccharide-responsive and beige-like anchor protein", "gene_name": "LRBA", "organism": "Human", "refseq_name": "lipopolysaccharide-responsive and beige-like anchor protein isoform 1", "refseq_ac": [ { "id": "NP_001186211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186211", "type": "external" } ], "gene_names_uniprotkb": "LRBA; BGL; CDC4L; LBA", "gene_names_refseq": "BGL; CDC4L; CVID8; LAB300; LBA; LRBA; uc.147", "protein_names_uniprotkb": "Lipopolysaccharide-responsive and beige-like anchor protein; Beige-like protein; CDC4-like protein", "protein_names_refseq": "CDC4-like protein; LPS-responsive vesicle trafficking, beach and anchor containing; lipopolysaccharide-responsive and beige-like anchor protein isoform 1; lipopolysaccharide-responsive and beige-like anchor protein; vesicle trafficking, beach and anchor containing", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); common variable immunodeficiency 8 (Disease Ontology:DOID:0081151)", "pathway": " (hsa:987)", "pathway_count": 1, "publication_count": 126, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11254716;12160729;1505956;15554694;16959974;17081983;17525332;18669648;19007248;19413330;19651622;19664994;20068231;21406692;22608502;22645359;23090970;23186163;23301498;23481700;24275569;24366607;24714562;24715725;25418920;25502872;25576301;25645385;25810538;25880248;25892735;26154972;26375851;26728094;26768311;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28510447;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30573663;30779550;30833945;31092671;31154438;31217245;31263572;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33773106;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35132862;35154160;35251023;35318648;35491430;35561310;35580925;36010968;36063261;36074705;36215666;36241641;36284347;36581221;38253038;39325073", "class_list": "", "function": "Arf1-dependent LRBA recruitment to Rab4 endosomes is required for endolysosome homeostasis., [RefSeq, PubMed]; Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population., [RefSeq, PubMed]; Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency., [RefSeq, PubMed]; Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules (By similarity). Involved in phagophore growth during mitophagy by regulating ATG9A trafficking to mitochondria (PubMed:33773106)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The crystal structure of the aPH-BEACH domains of LRBA were studied., [RefSeq, PubMed]; The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]., [RefSeq]; Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 32, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 79, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q4W5J4;Q4W5L6;Q8NFQ0;Q9H2U3;Q9H2U4", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0034497 protein localization to phagophore assembly site;GO:0000423 mitophagy", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "P50851-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60331-1", "uniprot_id": [ { "id": "KR101_HUMAN", "url": "https://www.uniprot.org/uniprot/P60331", "type": "external" } ], "mass": 28660.0, "length": 282, "protein_name": "Keratin-associated protein 10-1", "gene_name": "KRTAP10-1", "organism": "Human", "refseq_name": "keratin-associated protein 10-1", "refseq_ac": [ { "id": "NP_941964", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_941964", "type": "external" } ], "gene_names_uniprotkb": "KRTAP10-1; KAP10.1; KAP18-1; KRTAP10.1; KRTAP18-1; KRTAP18.1", "gene_names_refseq": "KAP10.1; KAP18-1; KAP18.1; KRTAP10-1; KRTAP10.1; KRTAP18-1; KRTAP18.1", "protein_names_uniprotkb": "Keratin-associated protein 10-1; High sulfur keratin-associated protein 10.1; Keratin-associated protein 10.1; Keratin-associated protein 18-1; Keratin-associated protein 18.1", "protein_names_refseq": "high sulfur keratin-associated protein 10.1; keratin-associated protein 10-1; keratin-associated protein 18-1; keratin-associated protein 18.1", "tax_id": 9606, "disease": "", "pathway": " (hsa:386677); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "14962103;15028290;15373777;16382671;1691188;1694855;1714783;17521629;23481192;23702583;2414304;25208914;9468612", "class_list": "", "function": "Hair shaft cuticle-specific KRTAP10-1 protein displays characteristics similar to the hair shaft cortex-specific KRTAP2 proteins, [RefSeq, PubMed]; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]; This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 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": 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": "Q0VAR0;Q0VAR1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P60331-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03181-1", "uniprot_id": [ { "id": "PPARD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03181", "type": "external" } ], "mass": 49903.0, "length": 441, "protein_name": "Peroxisome proliferator-activated receptor delta", "gene_name": "PPARD", "organism": "Human", "refseq_name": "peroxisome proliferator-activated receptor delta isoform 1", "refseq_ac": [ { "id": "NP_001165289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165289", "type": "external" } ], "gene_names_uniprotkb": "PPARD; NR1C2; PPARB", "gene_names_refseq": "FAAR; NR1C2; NUC1; NUCII; NUCI; PPARB; PPARD", "protein_names_uniprotkb": "Peroxisome proliferator-activated receptor delta; NUC1; NUCI; Nuclear hormone receptor 1; Nuclear receptor subfamily 1 group C member 2; PPAR-beta; PPAR-delta; Peroxisome proliferator-activated receptor beta", "protein_names_refseq": "PPAR-beta; PPAR-delta; PPARD/MYO1D fusion; nuclear hormone receptor 1; nuclear receptor subfamily 1 group C member 2; peroxisome proliferator-activated receptor beta; peroxisome proliferator-activated receptor delta isoform 1", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858); pancreatic cancer (Disease Ontology:DOID:1793); biliary tract cancer (Disease Ontology:DOID:4607); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5467); (R-HSA-200425); (R-HSA-383280); (R-HSA-5362517)", "pathway_count": 4, "publication_count": 92, "publication_id_list": "10198642;10235266;10493790;10542397;10559218;10677481;10809235;10851270;11356169;11790793;11865025;11909957;1333051;14517221;14711372;15060529;15175151;15604518;15866176;15896744;16387648;16405912;16751179;16931011;17223360;17560785;18542081;18556348;18619963;18722772;19116277;19144697;19464171;19622862;19850744;20042001;20215566;20233797;20457939;20538056;21504868;21998312;22123817;22871568;23991366;24277613;24715725;25645385;26828774;26992070;27600516;28834231;29557506;30429286;30833945;31092671;31530632;31844290;32157095;32265295;32387766;32439863;32938616;32983136;33164261;33912179;33968037;34171305;34185709;34509645;34932366;35051231;35318648;35580925;35675826;36010968;36297109;36942453;37011890;37938771;38418133;38704134;7704533;7711730;9048718;9099716;9344464;9399886;9653119;9685390;9691089;9706223", "class_list": "", "function": "Activation of PPARdelta in bone marrow endothelial progenitor cells improves their hematopoiesis-supporting ability after myelosuppressive injury., [RefSeq, PubMed]; C Allele of the PPARdelta+294T>C Polymorphism Confers a Higher Risk of Hypercholesterolemia, but not Obesity and Insulin Resistance: A Systematic Review and Meta-Analysis., [RefSeq, PubMed]; Clinical Relevance of Differential RARalpha and PPARbeta/delta Expression in Myelodysplastic Syndromes., [RefSeq, PubMed]; Haplotype of ESR1 and PPARD Genes Is Associated with Higher Anthropometric Changes in Han Chinese Obesity by Adjusting Dietary Factors-An 18-Month Follow-Up. Publication Status: Online-Only, [RefSeq, PubMed]; Ligand-activated transcription factor key mediator of energy metabolism in adipose tissues (PubMed:35675826). Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Has a preference for poly-unsaturated fatty acids, such as gamma-linoleic acid and eicosapentanoic acid. Once activated by a ligand, the receptor binds to promoter elements of target genes. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the acyl-CoA oxidase gene. Decreases expression of NPC1L1 once activated by a ligand., [UniProtKB, PubMed, PubMed, PubMed]; Peroxisome proliferator-activated receptor delta improves the features of atherosclerotic plaque vulnerability by regulating smooth muscle cell phenotypic switching., [RefSeq, PubMed]; This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. The encoded protein is thought to function as an integrator of transcriptional repression and nuclear receptor signaling. It may inhibit the ligand-induced transcriptional activity of peroxisome proliferator activated receptors alpha and gamma, though evidence for this effect is inconsistent. Expression of this gene in colorectal cancer cells may be variable but is typically relatively low. Knockout studies in mice suggested a role for this protein in myelination of the corpus callosum, lipid metabolism, differentiation, and epidermal cell proliferation. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K6J6;B4E3V3;B6ZGS1;B7Z3W1;E9PE18;Q5D1P0;Q7Z5K0;Q9BUD4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0003707 nuclear steroid receptor activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:1904659 D-glucose transmembrane transport;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006091 generation of precursor metabolites and energy;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q03181-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2Q1W2-1", "uniprot_id": [ { "id": "LIN41_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2Q1W2", "type": "external" } ], "mass": 93385.0, "length": 868, "protein_name": "E3 ubiquitin-protein ligase TRIM71", "gene_name": "TRIM71", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM71", "refseq_ac": [ { "id": "NP_001034200", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034200", "type": "external" } ], "gene_names_uniprotkb": "TRIM71; LIN41", "gene_names_refseq": "HYC4; HYDCC1; LIN-41; LIN41; TRIM71", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM71; 2.3.2.27; Protein lin-41 homolog; RING-type E3 ubiquitin transferase TRIM71; Tripartite motif-containing protein 71", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM71; RING-type E3 ubiquitin transferase TRIM71; abnormal cell LINeage LIN-41; homolog of C. elegans Lin-41; protein lin-41 homolog; tripartite motif containing 71, E3 ubiquitin protein ligase; tripartite motif-containing protein 71", "tax_id": 9606, "disease": "congenital hydrocephalus 4 (Disease Ontology:DOID:0070685); hydrocephalus (Disease Ontology:DOID:10908)", "pathway": " (hsa:131405); (R-HSA-983168)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "11062501;11350924;12646216;14734113;15224091;15224092;15571818;15722555;16245339;16247770;16595681;16849449;16954532;17890240;18662542;19028597;19352404;19452197;19489725;19664995;19851334;19874575;19940261;2261476;23125361;24239284;25576301;28431233;28832583;29242379;29557506;29983323;31570706;31732746;31844290;32522876;32816599;35051231;35893676;36215666;36244648;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase that cooperates with the microRNAs (miRNAs) machinery and promotes embryonic stem cells proliferation and maintenance (Probable). Binds to miRNAs and associates with AGO2, participating in post-transcriptional repression of transcripts such as CDKN1A (By similarity). In addition, participates in post-transcriptional mRNA repression in a miRNA independent mechanism (PubMed:23125361). Facilitates the G1-S transition to promote rapid embryonic stem cell self-renewal by repressing CDKN1A expression. Required to maintain proliferation and prevent premature differentiation of neural progenitor cells during early neural development: positively regulates FGF signaling by controlling the stability of SHCBP1 (By similarity). Specific regulator of miRNA biogenesis. Binds to miRNA MIR29A hairpin and postranscriptionally modulates MIR29A levels, which indirectly regulates TET proteins expression (PubMed:28431233)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; HDLBP Promotes Hepatocellular Carcinoma Proliferation and Sorafenib Resistance by Suppressing Trim71-dependent RAF1 Degradation., [RefSeq, PubMed]; Repression of human TRIM71 and the zebrafish lin-41 ortholog was abolished when predicted let-7 target sites were mutated. Regulation of TRIM71 expression by let-7 seems to have been evolutionarily conserved., [RefSeq, PubMed]; TRIM7 Restricts Coxsackievirus and Norovirus Infection by Detecting the C-Terminal Glutamine Generated by 3C Protease Processing. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM71 binds to IMP1 and is capable of positive and negative regulation of target RNAs., [RefSeq, PubMed]; TRIM71-mediated target recognition and repression mechanisms uncovers a role for this stem cell-specific factor and oncogene in non-canonical Nonsense-mediated Decay (NMD), revealing the existence of a novel mRNA surveillance mechanism which has been termed here the TRIM71/NMD axis., [RefSeq, PubMed]; The protein encoded by this gene is an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015]., [RefSeq]; Ubiquitin ligase TRIM71 suppresses ovarian tumorigenesis by degrading mutant p53. 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": 4, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0030371 translation repressor activity;GO:0035198 miRNA binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0000932 P-body", "go_biological_process": "GO:0010608 post-transcriptional regulation of gene expression;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0021915 neural tube development;GO:0000082 G1/S transition of mitotic cell cycle;GO:0017148 negative regulation of translation", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q2Q1W2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3SXY7-1", "uniprot_id": [ { "id": "LRIT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3SXY7", "type": "external" } ], "mass": 74754.0, "length": 679, "protein_name": "Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3", "gene_name": "LRIT3", "organism": "Human", "refseq_name": "leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 precursor", "refseq_ac": [ { "id": "NP_940908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940908", "type": "external" } ], "gene_names_uniprotkb": "LRIT3", "gene_names_refseq": "CSNB1F; FIGLER4; LRIT3", "protein_names_uniprotkb": "Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3", "protein_names_refseq": "fibronectin type III, immunoglobulin and leucine rich repeat domains 4; leucine-rich repeat, immunoglobulin-like and transmembrane domains 3; leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 precursor; leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3", "tax_id": 9606, "disease": "congenital stationary night blindness 1F (Disease Ontology:DOID:0110864)", "pathway": " (hsa:345193)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;20332099;22673519;23246293;27428514;28228285;28334377;30779550;31373491", "class_list": "", "function": "In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. No mutations were identified in the CABP4 or GPR179 gene., [RefSeq, PubMed]; LRIT3 is likely involved in coordination of the transsynaptic communication between cones and ON-BCs during synapse formation and, [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]; Plays a role in the synapse formation and synaptic transmission between cone photoreceptor cells and retinal bipolar cells (By similarity). Required for normal transmission of a light-evoked stimulus from the cone photoreceptor cells to the ON-bipolar cells and ON-ganglion cells in the inner retina (PubMed:28334377). Required in retinal ON-bipolar cells for normal localization of the cation channel TRPM1 at dendrite tips (By similarity). Seems to play a specific role in synaptic contacts made by ON-bipolar cells with cone photoreceptor pedicles (By similarity). May also have a role in cone synapse formation (By similarity). Might facilitate FGFR1 exit from the endoplasmic reticulum to the Golgi (PubMed:22673519). Could be a regulator of the FGFRs (PubMed:22673519)., [UniProtKB, PubMed, UniProtKB, PubMed]; The exact role of this LRR protein in cCSNB remains to be elucidated., [RefSeq, PubMed]; This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 29, "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": "C9J1C2;Q6ZTG1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0051286 cell tip;GO:0030425 dendrite;GO:0043204 perikaryon;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0040036 regulation of fibroblast growth factor receptor signaling pathway;GO:0007601 visual perception", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q3SXY7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3ZCV2-1", "uniprot_id": [ { "id": "CMAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3ZCV2", "type": "external" } ], "mass": 47583.0, "length": 418, "protein_name": "Ciliary microtubule-associated protein 2", "gene_name": "CIMAP2", "organism": "Human", "refseq_name": "ciliary microtubule-associated protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001104003", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104003", "type": "external" } ], "gene_names_uniprotkb": "CIMAP2; C1orf177; LEM; LEXM", "gene_names_refseq": "C1orf177; CIMAP2; LEM; LEXM", "protein_names_uniprotkb": "Ciliary microtubule-associated protein 2; Lymphocyte expansion molecule", "protein_names_refseq": "ciliary microtubule-associated protein 2 isoform 2; lymphocyte expansion molecule", "tax_id": 9606, "disease": "", "pathway": " (hsa:163747)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "25883318;27444420;32983136", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B7WPL2;Q8N7Y9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q3ZCV2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SZI1-1", "uniprot_id": [ { "id": "LRAD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SZI1", "type": "external" } ], "mass": 28581.0, "length": 272, "protein_name": "Low-density lipoprotein receptor class A domain-containing protein 2", "gene_name": "LDLRAD2", "organism": "Human", "refseq_name": "low-density lipoprotein receptor class A domain-containing protein 2 precursor", "refseq_ac": [ { "id": "NP_001013715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013715", "type": "external" } ], "gene_names_uniprotkb": "LDLRAD2", "gene_names_refseq": "LDLRAD2", "protein_names_uniprotkb": "Low-density lipoprotein receptor class A domain-containing protein 2", "protein_names_refseq": "low density lipoprotein receptor A domain containing 2; low-density lipoprotein receptor class A domain-containing protein 2 precursor; low-density lipoprotein receptor class A domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:401944)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "23481700;29557506;32938616;33392788;35051231", "class_list": "", "function": "LDLRAD2 promotes pancreatic cancer progression through Akt/mTOR signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B9EJB3;Q6ZSN5", "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": "Q5SZI1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6MZP7-1", "uniprot_id": [ { "id": "LIN54_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6MZP7", "type": "external" } ], "mass": 79494.0, "length": 749, "protein_name": "Protein lin-54 homolog", "gene_name": "LIN54", "organism": "Human", "refseq_name": "protein lin-54 homolog isoform b", "refseq_ac": [ { "id": "NP_001108479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108479", "type": "external" } ], "gene_names_uniprotkb": "LIN54; CXCDC1; KIAA2037", "gene_names_refseq": "CXCDC1; JC8.6; LIN54; MIP120; TCX1", "protein_names_uniprotkb": "Protein lin-54 homolog; CXC domain-containing protein 1", "protein_names_refseq": "CXC domain-containing protein 1; protein lin-54 homolog isoform b; protein lin-54 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:132660); (R-HSA-1362277); (R-HSA-1362300); (R-HSA-1538133); (R-HSA-156711); (R-HSA-69202); (R-HSA-69205); (R-HSA-69656)", "pathway_count": 8, "publication_count": 138, "publication_id_list": "10228158;10323868;10375532;10454565;10454584;10597240;10692433;11231585;11237011;11585773;11897663;11907280;11959842;11988738;12730199;12738781;12782299;1312467;1396589;14990995;15014447;15037762;15070733;15510213;15654331;16582612;17531812;17671431;18077418;18220336;18669648;19160488;19413330;19608861;19651622;19664995;19725879;20068230;20068231;20305658;21158410;21498570;21740066;22391450;22895175;23109430;23186163;23240008;23301498;24715725;25576301;27114449;27465258;27846572;27862975;27920218;28514659;28657654;28832583;28834231;28904123;29237092;29242379;29249144;29351928;29508533;29557506;29786170;30059200;30315122;30379171;30620550;31092671;31217245;31492838;31530632;31844290;32119511;32157095;32161166;32488085;32502341;32574038;32938616;32938750;32983136;33214551;33298915;33592498;33968037;34019948;34171305;34357683;34725712;34846842;35051231;35132862;35138101;35254053;35289036;35513511;35580925;35705054;36010968;36241641;36284347;37217939;37340703;37541260;38665916;38838015;39302247;39531497;39534244;40307207;40596516;41350704;7623816;7629134;7743995;7799941;7929342;8050359;8114698;8288595;8618861;8700224;8703070;8943353;9020173;9199292;9482921;9520412;9632134;9662327;9724731;9778043;9891042", "class_list": "", "function": "Component of the DREAM complex, a multiprotein complex that can both act as a transcription activator or repressor depending on the context (PubMed:17531812, PubMed:17671431). In G0 phase, the complex binds to more than 800 promoters and is required for repression of E2F target genes (PubMed:17531812, PubMed:17671431). In S phase, the complex selectively binds to the promoters of G2/M genes whose products are required for mitosis and participates in their cell cycle dependent activation (PubMed:17531812, PubMed:17671431). In the complex, acts as a DNA-binding protein that binds the promoter of CDK1 in a sequence-specific manner (PubMed:19725879). Specifically recognizes the consensus motif 5'-TTYRAA-3' in target DNA (PubMed:27465258)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; LIN54 harboring a mutation in CHC domain is localized to the cytoplasm and inhibits cell cycle progression., [RefSeq, PubMed]; LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).[supplied by OMIM, Dec 2010]., [RefSeq]; The DNA-binding properties of LIN54 and the structural basis for recognition of a cell cycle genes homology region sequence, are described. Publication Status: Online-Only, [RefSeq, PubMed]; The cysteine-rich CXC domain of LIN54 is a novel DNA-binding domain that binds to the cdc2 promoter in a sequence-specific manner, [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": 44, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 44, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 44, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 45, "binding_glycan_count": 0, "secondary_ac_list": "Q32M68;Q32M69;Q6N071;Q76B60", "ec_number_list": [], "go_molecular_function": "GO:0003680 minor groove of adenine-thymine-rich DNA binding;GO:0046872 metal ion binding;GO:0001067 transcription regulatory region nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0090571 RNA polymerase II transcription repressor complex", "go_biological_process": "GO:0034728 nucleosome organization;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": 18.5, "record_id": "Q6MZP7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXM1-1", "uniprot_id": [ { "id": "LRIG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXM1", "type": "external" } ], "mass": 123434.0, "length": 1119, "protein_name": "Leucine-rich repeats and immunoglobulin-like domains protein 3", "gene_name": "LRIG3", "organism": "Human", "refseq_name": "leucine-rich repeats and immunoglobulin-like domains protein 3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001129523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129523", "type": "external" } ], "gene_names_uniprotkb": "LRIG3; LIG3; PRO335", "gene_names_refseq": "LRIG3", "protein_names_uniprotkb": "Leucine-rich repeats and immunoglobulin-like domains protein 3; LIG-3", "protein_names_refseq": "LIG-3; leucine-rich repeats and immunoglobulin-like domains protein 3 isoform 1 precursor; leucine-rich repeats and immunoglobulin-like domains protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:121227)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;15203213;16532360;17393120;18037903;20934997;25418920;25576301;25880248;25892735;26375851;27846572;28218747;28228285;28832583;28855257;29242379;29331515;29437277;29557506;29769354;29786170;30315122;30379171;30429286;30573663;30626607;31154438;31217245;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32938616;33287939;33298915;33392160;33469151;33592498;33717175;33912179;33968037;34087483;34185709;34357683;34839782;35051231;35154160;35580925;36010968;36215666;36241641;36639372;37217939;37938771;40596516", "class_list": "", "function": "Down-regulation of LRIG3 in HP75 pituitary adenoma is reported., [RefSeq, PubMed]; Glioma-derived LRIG3 interacts with NETO2 in tumor-associated macrophages to modulate microenvironment and suppress tumor growth. Publication Status: Online-Only, [RefSeq, PubMed]; LRIG proteins may have a role in epidermal homeostasis and psoriasis, [RefSeq, PubMed]; LRIG proteins regulate lipid metabolism via BMP signaling and affect the risk of type 2 diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in craniofacial and inner ear morphogenesis during embryonic development. May act within the otic vesicle epithelium to control formation of the lateral semicircular canal in the inner ear, possibly by restricting the expression of NTN1 (By similarity)., [UniProtKB]; MiR-196a targeting LRIG3 promotes the proliferation and migration of cervical cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic significance of LRIG2 and LRIG3 proteins in urothelial bladder carcinoma., [RefSeq, PubMed]; These results indicate that expression and sub-cellular localization of LRIG1-3 might be of importance in the pathogenesis and prognosis of astrocytic tumors., [RefSeq, PubMed]", "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": 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": 44, "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": "Q6UXL7;Q8NC72", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q6UXM1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L985-1", "uniprot_id": [ { "id": "LIGO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L985", "type": "external" } ], "mass": 68066.0, "length": 606, "protein_name": "Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2", "gene_name": "LINGO2", "organism": "Human", "refseq_name": "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2 precursor", "refseq_ac": [ { "id": "NP_001245211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245211", "type": "external" } ], "gene_names_uniprotkb": "LINGO2; LERN3; LRRN6C; PRO31993", "gene_names_refseq": "LERN3; LINGO2; LRRN6C", "protein_names_uniprotkb": "Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2; Leucine-rich repeat neuronal protein 3; Leucine-rich repeat neuronal protein 6C", "protein_names_refseq": "leucine rich repeat neuronal 6C; leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2 precursor; leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2; leucine-rich repeat neuronal protein 3; leucine-rich repeat neuronal protein 6C", "tax_id": 9606, "disease": "", "pathway": " (hsa:158038)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;19240061;20200978;20369371;29557506;30426492;30696080;35051231;38888423", "class_list": "", "function": "LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; LINGO2 rs824248 may serve as a susceptibility marker for gestational diabetes mellitus in Chinese females., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; These indicate the involvement of LINGO2 in gastric cancer initiation and progression by altering cell motility, stemness, and tumorigenicity. Publication Status: Online-Only, [RefSeq, PubMed]; Variations in the LINGO2 and GLIS3 Genes and Gene-Environment Interactions Increase Gestational Diabetes Mellitus Risk in Chinese Women., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K4K7;B2RPM5;Q6ZMD0", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q7L985-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VZ4-1", "uniprot_id": [ { "id": "LRP11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VZ4", "type": "external" } ], "mass": 53311.0, "length": 500, "protein_name": "Low-density lipoprotein receptor-related protein 11", "gene_name": "LRP11", "organism": "Human", "refseq_name": "low-density lipoprotein receptor-related protein 11 isoform 1 precursor", "refseq_ac": [ { "id": "NP_116221", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116221", "type": "external" } ], "gene_names_uniprotkb": "LRP11", "gene_names_refseq": "LRP11; MANSC3; bA350J20.3", "protein_names_uniprotkb": "Low-density lipoprotein receptor-related protein 11; LRP-11", "protein_names_refseq": "LRP-11; low-density lipoprotein receptor-related protein 11 isoform 1 precursor; low-density lipoprotein receptor-related protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:84918)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;23090970;23584533;24190977;25813380;25892735;29242379;30429286;30459171;31154438;31611695;31848261;32157095;32350084;32387766;32938616;33141586;33912179;33968037;33981976;34509645;35051231;35251023;36010968;37074911", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "Q5VYC0;Q96SN6", "ec_number_list": [], "go_molecular_function": "GO:0051219 phosphoprotein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0009409 response to cold;GO:0042594 response to starvation;GO:0009612 response to mechanical stimulus;GO:0009414 response to water deprivation;GO:0009408 response to heat", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q86VZ4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IV03-1", "uniprot_id": [ { "id": "LUR1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IV03", "type": "external" } ], "mass": 24412.0, "length": 228, "protein_name": "Leucine rich adaptor protein 1-like", "gene_name": "LURAP1L", "organism": "Human", "refseq_name": "leucine rich adaptor protein 1-like", "refseq_ac": [ { "id": "NP_981948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_981948", "type": "external" } ], "gene_names_uniprotkb": "LURAP1L; C9orf150; HYST0841", "gene_names_refseq": "C9orf150; HYST0841; LRAP35b; LURAP1L; bA3L8.2", "protein_names_uniprotkb": "Leucine rich adaptor protein 1-like", "protein_names_refseq": "leucine repeat adaptor protein 35b; leucine rich adaptor protein 1-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:286343)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "15221005;28832583", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q5VZX7;Q8N923;Q8NCG2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8IV03-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWT6-1", "uniprot_id": [ { "id": "LRC8A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWT6", "type": "external" } ], "mass": 94199.0, "length": 810, "protein_name": "Volume-regulated anion channel subunit LRRC8A", "gene_name": "LRRC8A", "organism": "Human", "refseq_name": "volume-regulated anion channel subunit LRRC8A", "refseq_ac": [ { "id": "NP_001120716", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120716", "type": "external" } ], "gene_names_uniprotkb": "LRRC8A; KIAA1437; LRRC8; PRO247; SWELL1", "gene_names_refseq": "AGM5; HsLRRC8A; LRRC8A; LRRC8; SWELL1", "protein_names_uniprotkb": "Volume-regulated anion channel subunit LRRC8A; HsLRRC8A; Leucine-rich repeat-containing protein 8A; Swelling protein 1", "protein_names_refseq": "leucine rich repeat containing 8 family member A; leucine-rich repeat-containing protein 8A; swelling protein 1; volume-regulated anion channel subunit LRRC8A", "tax_id": 9606, "disease": "agammaglobulinemia 5 (Disease Ontology:DOID:0080588); agammaglobulinemia (Disease Ontology:DOID:2583)", "pathway": " (hsa:56262); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10.1101/2023.09.13.557529;10571941;11326272;11326338;11401429;12297987;12297989;12951058;12975309;13130483;14660746;14984739;15094057;15183935;15804357;17081983;17166836;18057121;18347014;1840603;18452278;18578522;18930737;19262752;1955075;19651622;19717468;21406692;22119785;22532330;22649030;23169667;23186163;23481700;24190977;24725410;24782309;24790029;25576301;26530471;26620797;26635246;26824658;27102039;28193731;28855257;28904123;29242379;29314611;29331515;29371604;29393594;29557506;29769723;29925591;30095067;30127360;30135305;30459171;31092671;31154438;31270356;31844290;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33139539;33171122;33298915;33592498;33912179;33936100;33968037;34087483;34357683;35051231;35154160;35251023;35580925;36010968;36215666;36241641;36897307;37074911;37468723;37524750;37543949;38350542;39909992;4018271;41018975;7615546;7619062;7749638;9114041;9537412", "class_list": "", "function": "Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731, PubMed:29769723). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731, PubMed:30095067). Mediates efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress (PubMed:28193731). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). In complex with LRRC8C or LRRC8E, acts as a transporter of immunoreactive cyclic dinucleotide GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol: mediates both import and export of 2'-3'-cGAMP, thereby promoting transfer of 2'-3'-cGAMP to bystander cells (PubMed:33171122). In contrast, complexes containing LRRC8D inhibit transport of 2'-3'-cGAMP (PubMed:33171122). Required for in vivo channel activity, together with at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731). Can form functional channels by itself (in vitro) (PubMed:26824658). Involved in B-cell development: required for the pro-B cell to pre-B cell transition (PubMed:14660746). Also required for T-cell development (By similarity). Required for myoblast differentiation: VRAC activity promotes membrane hyperpolarization and regulates insulin-stimulated glucose metabolism and oxygen consumption (By similarity). Also acts as a regulator of glucose-sensing in pancreatic beta cells: VRAC currents, generated in response to hypotonicity- or glucose-induced beta cell swelling, depolarize cells, thereby causing electrical excitation, leading to increase glucose sensitivity and insulin secretion (PubMed:29371604). Also plays a role in lysosome homeostasis by forming functional lysosomal VRAC channels in response to low cytoplasmic ionic strength condition: lysosomal VRAC channels are necessary for the formation of large lysosome-derived vacuoles, which store and then expel excess water to maintain cytosolic water homeostasis (PubMed:31270356, PubMed:33139539). Acts as a key factor in NLRP3 inflammasome activation by modulating itaconate efflux and mitochondria function (PubMed:39909992)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identified four genes, named TA-LRRP, AD158, LRRC5, and FLJ23420, as unknown LRRC8-like genes, [RefSeq, PubMed]; LRRC8 is required for B cell development., [RefSeq, PubMed]; LRRC8A as a central mediator promotes colon cancer metastasis by regulating PIP5K1B/PIP2 pathway., [RefSeq, PubMed]; Physiological Functions of the Volume-Regulated Anion Channel VRAC/LRRC8 and the Proton-Activated Chloride Channel ASOR/TMEM206., [RefSeq, PubMed]; Structural insights into anion selectivity and activation mechanism of LRRC8 volume-regulated anion channels., [RefSeq, PubMed]; Swell1 channel-mediated tonic GABA release from astrocytes modulates cocaine reward., [RefSeq, PubMed]; This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6UXM2;Q8NCI0;Q9P2B1", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0005225 volume-sensitive anion channel activity;GO:0042802 identical protein binding;GO:0140360 cyclic-GMP-AMP transmembrane transporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0098656 monoatomic anion transmembrane transport;GO:0006970 response to osmotic stress;GO:0007283 spermatogenesis;GO:0032024 positive regulation of insulin secretion;GO:0006884 cell volume homeostasis", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q8IWT6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N239-1", "uniprot_id": [ { "id": "KLH34_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N239", "type": "external" } ], "mass": 70612.0, "length": 644, "protein_name": "Kelch-like protein 34", "gene_name": "KLHL34", "organism": "Human", "refseq_name": "kelch-like protein 34", "refseq_ac": [ { "id": "NP_695002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_695002", "type": "external" } ], "gene_names_uniprotkb": "KLHL34", "gene_names_refseq": "KLHL34", "protein_names_uniprotkb": "Kelch-like protein 34", "protein_names_refseq": "RP11-450P7.3; kelch-like 34; kelch-like protein 34", "tax_id": 9606, "disease": "", "pathway": " (hsa:257240)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "29242379;29557506;29786170;31844290;32488085;35051231;35494241;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": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8N239-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6Y2-1", "uniprot_id": [ { "id": "LRC17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6Y2", "type": "external" } ], "mass": 51800.0, "length": 441, "protein_name": "Leucine-rich repeat-containing protein 17", "gene_name": "LRRC17", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 17 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001026862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026862", "type": "external" } ], "gene_names_uniprotkb": "LRRC17; P37NB; PRO9909", "gene_names_refseq": "LRRC17; P37NB", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 17; p37NB", "protein_names_refseq": "37 kDa leucine-rich repeat (LRR) protein; leucine-rich repeat-containing protein 17 isoform 1 precursor; leucine-rich repeat-containing protein 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:10234)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12975309;19336404;27036009;27355564;30459171;31154438;32988884;33592498;33865167;35051231;38665916;8982252", "class_list": "", "function": "Involved in bone homeostasis. Acts as a negative regulator of RANKL-induced osteoclast precursor differentiation from bone marrow precursors (By similarity)., [UniProtKB]; LRRC17 Is Linked to Prognosis of Ovarian Cancer Through a p53-dependent Anti-apoptotic Function., [RefSeq, PubMed]; LRRc17 controls BMSC senescence via mitophagy and inhibits the therapeutic effect of BMSCs on ovariectomy-induced bone loss., [RefSeq, PubMed]; Low circulating plasma level of LRRc17 might serve as an independent and additive risk factor for osteoporotic fractures., [RefSeq, PubMed]; Whole-genome microarray mRNA-expression profiles of myofibroblasts and skin fibroblasts revealed four additional genes that are significantly differentially expressed in these two cell types: NKX2-3 and LRRC17 in myofibroblasts and SHOX2 and TBX5 in skin fibroblasts, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q13288;Q6UWA7;Q75MG5", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0001503 ossification;GO:0045671 negative regulation of osteoclast differentiation;GO:0048539 bone marrow development", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8N6Y2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8ND94-1", "uniprot_id": [ { "id": "LRN4L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8ND94", "type": "external" } ], "mass": 25262.0, "length": 238, "protein_name": "LRRN4 C-terminal-like protein", "gene_name": "LRRN4CL", "organism": "Human", "refseq_name": "LRRN4 C-terminal-like protein precursor", "refseq_ac": [ { "id": "NP_981967", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_981967", "type": "external" } ], "gene_names_uniprotkb": "LRRN4CL; PRO1410", "gene_names_refseq": "LRRN4CL", "protein_names_uniprotkb": "LRRN4 C-terminal-like protein", "protein_names_refseq": "LRRN4 C-terminal-like protein precursor; LRRN4 C-terminal-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:221091)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "12975309;27600516;32938616;33758365;35051231", "class_list": "", "function": "CRISPR activation screen in mice identifies novel membrane proteins enhancing pulmonary metastatic colonisation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K5L9", "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": "Q8ND94-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAF5-1", "uniprot_id": [ { "id": "LQK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAF5", "type": "external" } ], "mass": 10021.0, "length": 88, "protein_name": "Putative uncharacterized protein LQK1", "gene_name": "FLVCR1-DT", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FLVCR1-DT; FLVCR1-AS1; LQK1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LQK1; FLVCR1 antisense RNA 1; FLVCR1 divergent transcript", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "11943475;28904123", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8TAF5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96L50-1", "uniprot_id": [ { "id": "LLR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96L50", "type": "external" } ], "mass": 46723.0, "length": 414, "protein_name": "Leucine-rich repeat protein 1", "gene_name": "LRR1", "organism": "Human", "refseq_name": "leucine-rich repeat protein 1 isoform 1", "refseq_ac": [ { "id": "NP_689542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689542", "type": "external" } ], "gene_names_uniprotkb": "LRR1; PPIL5", "gene_names_refseq": "4-1BBLRR; LRR-1; LRR1; PPIL5", "protein_names_uniprotkb": "Leucine-rich repeat protein 1; 4-1BB-mediated-signaling molecule; 4-1BBlrr; LRR-1; LRR-repeat protein 1; Peptidylprolyl isomerase-like 5", "protein_names_refseq": "4-1BB-mediated signaling molecule; LRR-repeat protein 1; cyclophilin-like 5; epididymis secretory sperm binding protein; leucine-rich repeat protein 1 isoform 1; peptidylprolyl isomerase-like 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:122769); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 166, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11804328;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;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;21074724;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;25418920;25531226;25576301;25645385;26154972;26344709;26460955;26632597;26906416;26929215;26992070;27030794;27222660;27565346;28115426;28228285;28649982;28832583;28834231;28904123;29153394;29242379;29557506;30410026;30524438;30610225;31844290;32005965;32157095;32284348;32357974;32387766;32488085;32502341;32938616;33298915;33444648;33592498;33691108;33912179;33936100;33968037;34037657;34087483;34171305;34509645;34700328;35580925;36010968;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "LRR1-mediated replisome disassembly promotes DNA replication by recycling replisome components., [RefSeq, PubMed]; Results identify the CRL2(LRR-1) ubiquitin ligase as a conserved regulator of Cip/Kip CKIs that promotes the degradation of C. elegans CKI-1 and human p21., [RefSeq, PubMed]; Substrate recognition subunit of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15601820). ECS(LRR1) ubiquitinates MCM7 and promotes CMG replisome disassembly by VCP and chromatin extraction during S-phase (By similarity). May negatively regulate the 4-1BB-mediated signaling cascades which result in the activation of NK-kappaB and JNK1 (PubMed:11804328)., [UniProtKB, PubMed, UniProtKB, PubMed]; The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A5D6X3;B4DDE0;Q52M24;Q86SZ1;Q8N6H9", "ec_number_list": [], "go_molecular_function": "GO:0016853 isomerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:2000104 negative regulation of DNA-templated DNA replication;GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "Q96L50-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV99-1", "uniprot_id": [ { "id": "LRC61_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV99", "type": "external" } ], "mass": 28014.0, "length": 259, "protein_name": "Leucine-rich repeat-containing protein 61", "gene_name": "LRRC61", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 61", "refseq_ac": [ { "id": "NP_001136400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136400", "type": "external" } ], "gene_names_uniprotkb": "LRRC61", "gene_names_refseq": "HSPC295; LRRC61", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 61", "protein_names_refseq": "leucine-rich repeat-containing protein 61", "tax_id": 9606, "disease": "", "pathway": " (hsa:65999)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "25576301;26154972;27600516;27846572;27920218;28228285;28832583;28834231;29242379;30429286;31154438;31217245;31844290;31848261;32488085;32938616;35051231", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B3KUW0;D3DWY8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9BV99-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWQ8-1", "uniprot_id": [ { "id": "LFG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWQ8", "type": "external" } ], "mass": 35110.0, "length": 316, "protein_name": "Protein lifeguard 2", "gene_name": "FAIM2", "organism": "Human", "refseq_name": "protein lifeguard 2", "refseq_ac": [ { "id": "NP_036438", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036438", "type": "external" } ], "gene_names_uniprotkb": "FAIM2; KIAA0950; LFG2; LFG; NMP35; TMBIM2", "gene_names_refseq": "FAIM2; LFG2; LFG; NGP35; NMP35; TMBIM2", "protein_names_uniprotkb": "Protein lifeguard 2; Fas apoptotic inhibitory molecule 2; Neural membrane protein 35; Transmembrane BAX inhibitor motif-containing protein 2", "protein_names_refseq": "neural membrane protein 35; protein lifeguard 2; transmembrane BAX inhibitor motif-containing protein 2", "tax_id": 9606, "disease": "chronic obstructive pulmonary disease (Disease Ontology:DOID:3083)", "pathway": " (hsa:23017)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10535980;11237011;16964429;17635665;17912957;18440869;19784873;20336373;20336406;31154438;33685194;35468884;35494241;37083768;38430020;38697123", "class_list": "", "function": "Antiapoptotic Protein FAIM2 is targeted by miR-3202, and DUX4 via TRIM21, leading to cell death and defective myogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Antiapoptotic protein which protects cells uniquely from Fas-induced apoptosis. Regulates Fas-mediated apoptosis in neurons by interfering with caspase-8 activation. May play a role in cerebellar development by affecting cerebellar size, internal granular layer (IGL) thickness, and Purkinje cell (PC) development., [UniProtKB, PubMed, PubMed]; FAIM2 is correlated with metastasis of medulloblastoma through bioinformatics analysis., [RefSeq, PubMed]; Human keratinocytes were transfected with either Flip, Faim, or Lifeguard (LFG). Our results suggest that heterotopic expression of antiapoptotic proteins can induce the resistance of keratinocytes to a major mechanism of rejection., [RefSeq, PubMed]; MiR-127-5p regulates FAIM2-mediated cell apoptosis and participates in cerebral ischemia-reperfusion injury. Publication Status: Online-Only, [RefSeq, PubMed]; SNHG7 and FAIM2 are up-regulated and co-expressed in colorectal adenocarcinoma tissues.', trans 'SNHG7 a FAIM2 jsou ve tkani kolorektalniho karcinomu up-regulovany a koexprimovany., [RefSeq, PubMed]; The tmbim2 may participate in cell death regulation by interacting with proteins of Bcl-2 family, promoting tumor metastasis, which is deduced from the evolutionary conservation of the membrane protein family containing multiple membrane spanning segments, [RefSeq, PubMed]; Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3' UTR of FAIM2., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K1W6;B3KR08;Q9UJY9;Q9Y2F7", "ec_number_list": [], "go_molecular_function": "GO:0005262 calcium channel activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0021681 cerebellar granular layer development;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0043524 negative regulation of neuron apoptotic process;GO:0021680 cerebellar Purkinje cell layer development", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9BWQ8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYS8-1", "uniprot_id": [ { "id": "LRRC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYS8", "type": "external" } ], "mass": 42943.0, "length": 371, "protein_name": "Leucine-rich repeat-containing protein 2", "gene_name": "LRRC2", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 2", "refseq_ac": [ { "id": "NP_078788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078788", "type": "external" } ], "gene_names_uniprotkb": "LRRC2", "gene_names_refseq": "LRRC2", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 2", "protein_names_refseq": "leucine-rich repeat-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79442)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11896456;29557506;30379171;32938616;35051231", "class_list": "", "function": "This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "B2RDQ7;Q96LT5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9BYS8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C099-1", "uniprot_id": [ { "id": "LRCC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C099", "type": "external" } ], "mass": 119596.0, "length": 1032, "protein_name": "Leucine-rich repeat and coiled-coil domain-containing protein 1", "gene_name": "LRRCC1", "organism": "Human", "refseq_name": "leucine-rich repeat and coiled-coil domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_208325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_208325", "type": "external" } ], "gene_names_uniprotkb": "LRRCC1; CLERC; KIAA1764", "gene_names_refseq": "CLERC; CLERK; LRRCC1; SAP2; VFL1", "protein_names_uniprotkb": "Leucine-rich repeat and coiled-coil domain-containing protein 1; Centrosomal leucine-rich repeat and coiled-coil domain-containing protein", "protein_names_refseq": "centrosomal leucine-rich repeat and coiled-coil domain-containing protein; leucine-rich repeat and coiled-coil domain-containing protein 1 isoform 1; leucine-rich repeat and coiled-coil domain-containing protein 1; sodium channel associated protein 2; variable number of flagella 1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:85444)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18452278;18728398;22544926;23481700;25576301;25645385;26154972;26375851;26811146;26992070;27600516;27846572;27862975;27920218;28228285;28832583;28834231;28855257;29242379;29557506;29632046;30315122;30379171;30429286;30524438;30833945;31092671;31154438;31530632;31844290;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32897882;32938616;33141586;33592498;33691108;33968037;33981976;34087483;34405274;34509645;34932366;35051231;35319462;35580925;36010968", "class_list": "", "function": "Evolutionary conservation of centriole rotational asymmetry in the human centrosome. Publication Status: Online-Only, [RefSeq, PubMed]; Required for the organization of the mitotic spindle. Maintains the structural integrity of centrosomes during mitosis., [UniProtKB, PubMed]; These data indicate that the major function of CLERC during mitosis is to maintain the structural integrity of centrosomes, thereby contributing to spindle bipolarity., [RefSeq, PubMed]; This gene encodes a centrosomal protein that maintains the structural integrity of the centrosome and plays a key role in mitotic spindle formation. The encoded protein contains an N-terminal leucine-rich repeat domain and a C-terminal coiled-coil domain. It associates with the centrosome throughout the cell cycle and accumulates on the mitotic centrosome. [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": 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": 27, "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": "B4DYX6;B5RI11;Q8N768;Q96DK7;Q96N01", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005814 centriole", "go_biological_process": "GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9C099-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1C0-1", "uniprot_id": [ { "id": "LPAR5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1C0", "type": "external" } ], "mass": 41347.0, "length": 372, "protein_name": "Lysophosphatidic acid receptor 5", "gene_name": "LPAR5", "organism": "Human", "refseq_name": "lysophosphatidic acid receptor 5", "refseq_ac": [ { "id": "NP_001136433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136433", "type": "external" } ], "gene_names_uniprotkb": "LPAR5; GPR92; GPR93", "gene_names_refseq": "GPR92; GPR93; KPG_010; LPA5; LPAR5", "protein_names_uniprotkb": "Lysophosphatidic acid receptor 5; G protein-coupled receptor 92; G protein-coupled receptor 93; LPA receptor 5; LPA-5", "protein_names_refseq": "G protein-coupled receptor 92; G-protein coupled receptor 93; LPA receptor 5; LPA-5; lysophosphatidic acid receptor 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:57121); (R-HSA-416476); (R-HSA-418594); (R-HSA-419408)", "pathway_count": 4, "publication_count": 77, "publication_id_list": "10191087;10488065;10488122;10567430;10617617;10727522;10727532;10753843;10799507;10861009;11007482;11015615;11062477;11574155;11742120;11753430;12044878;12120503;12427546;12730698;15951850;16182515;16268778;16339447;16634148;16754659;16774927;16923326;18434541;18515384;18577758;18936096;1905813;19366702;20061941;2160972;23388400;24900670;2534964;26990079;2748346;2834384;2841328;28467828;28832583;28834231;29242379;29557506;29632711;29735753;30429286;3086311;31154438;31844290;31848261;32350084;32897882;33091337;33912179;35051231;36010968;36199069;36591220;37037831;37061203;37187093;7937899;8015379;8406495;8626678;8664309;8878560;9070858;9305846;9525886;9770463;9804623", "class_list": "", "function": "Crosstalk between cannabinoid receptor 2 and lysophosphatidic acid receptor 5., [RefSeq, PubMed]; Emerging roles of lysophosphatidic acid receptor subtype 5 (LPAR5) in inflammatory diseases and cancer. Review article, [RefSeq, PubMed]; GPR92 is proposed as a fifth LPA receptor, LPA5, which likely has distinct physiological functions in view of its expression pattern., [RefSeq, PubMed]; Infiltration of LPAR5[+] macrophages in osteosarcoma tumor microenvironment predicts better outcomes. Publication Status: Online-Only, [RefSeq, PubMed]; LPAR5 confers radioresistance to cancer cells associated with EMT activation via the ERK/Snail pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Potential role of LPAR5 gene in prognosis and immunity of thyroid papillary carcinoma and pan-cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities., [UniProtKB]; This gene encodes a member of the rhodopsin class of G protein-coupled transmembrane receptors. This protein transmits extracellular signals from lysophosphatidic acid to cells through heterotrimeric G proteins and mediates numerous cellular processes. Many G protein receptors serve as targets for pharmaceutical drugs. Transcript variants of this gene have been described.[provided by RefSeq, Dec 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0048266 behavioral response to pain", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9H1C0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCC9-1", "uniprot_id": [ { "id": "LST2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCC9", "type": "external" } ], "mass": 96490.0, "length": 887, "protein_name": "Lateral signaling target protein 2 homolog", "gene_name": "ZFYVE28", "organism": "Human", "refseq_name": "lateral signaling target protein 2 homolog isoform 3", "refseq_ac": [ { "id": "NP_001166127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166127", "type": "external" } ], "gene_names_uniprotkb": "ZFYVE28; KIAA1643; LST2", "gene_names_refseq": "LST2; LYST2; ZFYVE28; lst-2", "protein_names_uniprotkb": "Lateral signaling target protein 2 homolog; Zinc finger FYVE domain-containing protein 28; hLst2", "protein_names_refseq": "hLst2; lateral signaling target protein 2 homolog isoform 3; lateral signaling target protein 2 homolog; lateral signaling target-2 homolog; zinc finger FYVE domain-containing protein 28; zinc finger, FYVE domain containing 28", "tax_id": 9606, "disease": "", "pathway": " (hsa:57732)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;19460345;23186163;28832583;30429286;31844290;32157095;32488085;33968037;35051231;35580925;37217939;37884540;39894887", "class_list": "", "function": "Negative regulator of epidermal growth factor receptor (EGFR) signaling. Acts by promoting EGFR degradation in endosomes when not monoubiquitinated., [UniProtKB, PubMed]; Study concludes that endosomal localization of Lst2 (ZFYVE28), along with an ability to divert incoming EGFR molecules to degradation in lysosomes, is regulated by ubiquitinylation/deubiquitinylation cycles., [RefSeq, PubMed]; ZFYVE28 mediates insulin resistance by promoting phosphorylated insulin receptor degradation via increasing late endosomes production. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RP83;B3KX50;B7Z1Q7;B7Z2G9;B7Z2M2;B7ZB19;E9PB54;E9PB64;E9PG77;Q7Z6J3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0032266 phosphatidylinositol-3-phosphate binding", "go_cellular_component": "GO:0005829 cytosol;GO:0031901 early endosome membrane", "go_biological_process": "GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway;GO:0007175 negative regulation of epidermal growth factor-activated receptor activity", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9HCC9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZS2-1", "uniprot_id": [ { "id": "KLRF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZS2", "type": "external" } ], "mass": 26563.0, "length": 231, "protein_name": "Killer cell lectin-like receptor subfamily F member 1", "gene_name": "KLRF1", "organism": "Human", "refseq_name": "killer cell lectin-like receptor subfamily F member 1 isoform KLRF1-s", "refseq_ac": [ { "id": "NP_001278751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278751", "type": "external" } ], "gene_names_uniprotkb": "KLRF1; CLEC5C; ML", "gene_names_refseq": "CLEC5C; KLRF1; NKp80", "protein_names_uniprotkb": "Killer cell lectin-like receptor subfamily F member 1; Activating coreceptor NKp80; C-type lectin domain family 5 member C; Lectin-like receptor F1", "protein_names_refseq": "C-type lectin domain family 5 member C; activating coreceptor NKp80; killer cell lectin-like receptor subfamily F member 1 isoform KLRF1-s; killer cell lectin-like receptor subfamily F, member 1; lectin-like receptor F1", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:51348); (R-HSA-198933)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10499918;10671213;10746781;11265639;11489943;11513152;11513955;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;18922855;19149696;19359216;19592130;20237496;20730098;21149606;21241660;21800138;21841309;21877119;22396535;23609447;23695528;23929856;24305946;25703557;25716998;26277900;26284469;26300885;27373165;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "glycogene", "function": "Functions as an activating receptor involved in immunosurveillance upon binding to various ligands displayed at the surface of myeloid cells. Upon interaction with CLEC2B ligand, stimulates NK-cell cytotoxicity and cytokine production leading to the cytolysis of malignant CLEC2B-expressing myeloid cells. Actviation of the common cytotoxicity pathway involves SRC and SYK kinases (PubMed:21149606)., [UniProtKB, PubMed, PubMed]; In the second trimester, functional markers of Decidual natural killer activation, i.e., angiogenic factor production (e.g., vascular endothelial growth factor, interleukin-8, interferon-gamma), remained stable despite an increase in NKp80 or NKG2D surface expression., [RefSeq, PubMed]; KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009]., [RefSeq]; NKp80 is a marker of natural killer (NK) cell maturity in secondary lymphoid tissues and supports NK cell development through a stage 4a intermediate with ILC3-associated features., [RefSeq, PubMed]; NKp80 is expressed on a highly responsive subset of effector memory CD8 T cells with an inflammatory NK-like phenotype and promotes T-cell responses toward AICL-expressing cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our data report a previously unrecognized regulatory circuit enabling autonomous control of human NK cell responses via the NKp80-AICL axis., [RefSeq, PubMed]; Two non-consensus amino acids of NKp80, in particular arginine 6, critically impair both hemi-immunoreceptor tyrosine-based activation motif phosphorylation and Syk recruitment., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 258, "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": "A0A0C4DGY9;Q4KMT5;Q96PR2;Q96PR3;Q9NZS1", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0030246 carbohydrate binding;GO:0032393 MHC class I receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0045087 innate immune response;GO:0051132 NK T cell activation", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9NZS2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P244-1", "uniprot_id": [ { "id": "LRFN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P244", "type": "external" } ], "mass": 82318.0, "length": 771, "protein_name": "Leucine-rich repeat and fibronectin type III domain-containing protein 1", "gene_name": "LRFN1", "organism": "Human", "refseq_name": "leucine-rich repeat and fibronectin type III domain-containing protein 1 precursor", "refseq_ac": [ { "id": "NP_065913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065913", "type": "external" } ], "gene_names_uniprotkb": "LRFN1; KIAA1484; SALM2", "gene_names_refseq": "LRFN1; SALM2", "protein_names_uniprotkb": "Leucine-rich repeat and fibronectin type III domain-containing protein 1; Synaptic adhesion-like molecule 2", "protein_names_refseq": "CTC-246B18.8; leucine-rich repeat and fibronectin type III domain-containing protein 1 precursor; leucine-rich repeat and fibronectin type III domain-containing protein 1; synaptic adhesion-like molecule 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57622); (R-HSA-8849932)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10.1101/2023.09.13.557529;16495444;16630835;17525332;18227064;19413330;19681166;20600927;23186163;24190977;26321637;26992070;28832583;29314611;31844290;32350084;33110456;34171305;34357683;34405274;35051231;35251023;35580925;7569905;8601796", "class_list": "", "function": "Identification of a Set of Genes Improving Survival Prediction in Kidney Renal Clear Cell Carcinoma through Integrative Reanalysis of Transcriptomic Data. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes neurite outgrowth in hippocampal neurons. Involved in the regulation and maintenance of excitatory synapses. Induces the clustering of excitatory postsynaptic proteins, including DLG4, DLGAP1, GRIA1 and GRIN1 (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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q8TBS9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0099151 regulation of postsynaptic density assembly", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9P244-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MYZ0-1", "uniprot_id": [ { "id": "MIY4B_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MYZ0", "type": "external" } ], "mass": 51976.0, "length": 460, "protein_name": "Inactive ubiquitin carboxyl-terminal hydrolase MINDY-4B", "gene_name": "MINDY4B", "organism": "Human", "refseq_name": "inactive ubiquitin carboxyl-terminal hydrolase MINDY-4B", "refseq_ac": [ { "id": "NP_001338210", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001338210", "type": "external" } ], "gene_names_uniprotkb": "MINDY4B; C3orf76; FAM188B2", "gene_names_refseq": "C3orf76; FAM188B2; MINDY4B", "protein_names_uniprotkb": "Inactive ubiquitin carboxyl-terminal hydrolase MINDY-4B; Protein FAM188B2", "protein_names_refseq": "epididymis secretory sperm binding protein; family with sequence similarity 188 member B2; inactive ubiquitin carboxyl-terminal hydrolase MINDY-4B; protein FAM188B2; putative UPF0526 protein B", "tax_id": 9606, "disease": "", "pathway": " (hsa:646951)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "32488085;33141586", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A1W2PQ44", "ec_number_list": [], "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity;GO:1990380 K48-linked deubiquitinase activity", "go_cellular_component": "", "go_biological_process": "GO:0071108 protein K48-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A8MYZ0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60291-1", "uniprot_id": [ { "id": "MGRN1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60291", "type": "external" } ], "mass": 60753.0, "length": 552, "protein_name": "E3 ubiquitin-protein ligase MGRN1", "gene_name": "MGRN1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase MGRN1 isoform 2", "refseq_ac": [ { "id": "NP_001135761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135761", "type": "external" } ], "gene_names_uniprotkb": "MGRN1; KIAA0544; RNF156", "gene_names_refseq": "MGRN1; RNF156", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase MGRN1; 2.3.2.27; Mahogunin RING finger protein 1; RING finger protein 156; RING-type E3 ubiquitin transferase MGRN1", "protein_names_refseq": "E3 ubiquitin-protein ligase MGRN1 isoform 2; RING finger protein 156; RING-type E3 ubiquitin transferase MGRN1; mahogunin RING finger protein 1; mahogunin ring finger 1, E3 ubiquitin protein ligase; probable E3 ubiquitin-protein ligase MGRN1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23295); (R-HSA-983168)", "pathway_count": 2, "publication_count": 102, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;17229889;18662542;18669648;19028597;19320733;19352404;19452197;19489725;19703557;19737927;19851334;19874575;19940261;20213681;2261476;23186163;23481700;24366607;24714562;24715725;25418920;25576301;25645385;25802875;25880248;25892735;26154972;26375851;26992070;27846572;27920218;28228285;28467828;28514659;28832583;28834231;28904123;28947386;29242379;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30484775;30524438;30833945;31154438;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34185709;34211107;34357683;34921635;34932366;35051231;35251023;35561310;35580925;36010968;36241641;36581221;37938771;38008393;39302247;9380723;9668046", "class_list": "", "function": "A role for Mahogunin in a proteasome-independent ubiquitylation pathway: TSG101 is a specific Mahogunin substrate, [RefSeq, PubMed]; E3 ubiquitin ligase., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; E3 ubiquitin-protein ligase. Mediates monoubiquitination at multiple sites of TSG101 in the presence of UBE2D1, but not of UBE2G1, nor UBE2H (PubMed:17229889, PubMed:19703557). Plays a role in the regulation of endosome-to-lysosome trafficking (PubMed:17229889). Impairs MC1R- and MC4R-signaling by competing with GNAS-binding to MCRs and inhibiting agonist-induced cAMP production (PubMed:19737927). Does not inhibit ADRB2-signaling (PubMed:19737927). Does not promote MC1R ubiquitination (PubMed:19737927). Acts also as a negative regulator of hedgehog signaling (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; In a heterologous expression system, MC1R-dependent Arrestins B ubiquitination was enhanced by overexpression of MGRN1 and was impaired by siRNA-mediated MGRN1 knockdown thus pointing to MGRN1 as the responsible E3-ligase., [RefSeq, PubMed]; MGRN1 depletion promotes intercellular adhesion in melanoma by upregulation of E-cadherin and inhibition of CDC42., [RefSeq, PubMed]; Mahogunin Ring Finger 1 regulates pigmentation by controlling the pH of melanosomes in melanocytes and melanoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4URL3;A4URL4;Q86W76", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0032100 positive regulation of appetite;GO:0048022 negative regulation of melanin biosynthetic process;GO:0045744 negative regulation of G protein-coupled receptor signaling pathway;GO:0008333 endosome to lysosome transport;GO:0007224 smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "O60291-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75030-1", "uniprot_id": [ { "id": "MITF_HUMAN", "url": "https://www.uniprot.org/uniprot/O75030", "type": "external" } ], "mass": 58795.0, "length": 526, "protein_name": "Microphthalmia-associated transcription factor", "gene_name": "MITF", "organism": "Human", "refseq_name": "microphthalmia-associated transcription factor isoform 4", "refseq_ac": [ { "id": "NP_000239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000239", "type": "external" } ], "gene_names_uniprotkb": "MITF; BHLHE32", "gene_names_refseq": "CMM8; COMMAD; MITF-A; MITF; MI; WS2A; WS2; bHLHe32", "protein_names_uniprotkb": "Microphthalmia-associated transcription factor; Class E basic helix-loop-helix protein 32; bHLHe32", "protein_names_refseq": "class E basic helix-loop-helix protein 32; melanogenesis associated transcription factor; microphtalmia-associated transcription factor; microphthalmia-associated transcription factor isoform 4; microphthalmia-associated transcription factor", "tax_id": 9606, "disease": "Tietz syndrome (Disease Ontology:DOID:0090002); ocular albinism with sensorineural deafness (Disease Ontology:DOID:0090100); Waardenburg syndrome type 1 (Disease Ontology:DOID:0110948); Waardenburg syndrome type 2A (Disease Ontology:DOID:0110950); osteopetrosis (Disease Ontology:DOID:13533); Tietze's syndrome (Disease Ontology:DOID:14021); melanoma (Disease Ontology:DOID:1909); lysosomal storage disease (Disease Ontology:DOID:3211); Camurati-Engelmann disease (Disease Ontology:DOID:4997); familial melanoma (Disease Ontology:DOID:6846); Waardenburg syndrome (Disease Ontology:DOID:9258); melanoma, cutaneous malignant, susceptibility to, 8 (MONDO:MONDO:0013759); coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (MONDO:MONDO:0015014)", "pathway": " (hsa:4286); (R-HSA-3232118); (R-HSA-9856649)", "pathway_count": 3, "publication_count": 142, "publication_id_list": "10567402;10578055;10587587;10611221;10655586;10673502;10760582;10851256;11027551;11230166;11237011;11792706;11840323;11891324;11912130;11930005;12072434;12356736;12419227;14645519;14975237;15118077;15226305;15247228;15494207;15507434;15715979;16014379;16034366;16781829;16822840;1698554;17283066;1748288;17623675;18220336;18284417;18374648;18617891;18644867;18669648;19524539;19608861;19744555;20016603;20068231;20163701;20209145;20460180;20547755;21098080;21375726;21486943;21749389;21900752;21965087;21965678;22012259;22022399;22046555;22080950;22647378;23159739;23186163;23190890;23207919;23401004;23417673;24390485;24631970;24782567;24835590;25114211;25218447;25248477;25576301;25595898;25645385;25880248;25892735;26073453;27128622;27600516;27680874;27846572;27869121;27889061;27935866;28236341;28394346;28842328;29295999;29393594;29557506;30524438;30620550;30804224;31844290;32157095;32488085;32636443;32983136;33592498;33744299;33968037;34140478;34171305;35051231;35132862;35138101;35254053;35580925;36010968;36241641;36284347;36608670;37340703;37770430;37886470;37938771;38665916;38961064;39074626;39169200;39302247;39531497;39534244;40136647;40596516;5338216;7958932;8069297;8336698;8589691;9199364;9353119;9440696;9560246;9647758;9676189;9760192;9973413", "class_list": "", "function": "A novel MITF isoform, MITF-CM, which possesses a unique amino terminus was identified., [RefSeq, PubMed]; A novel splice variant of MITF-M,named MITF-Mdel, was id'd and contains two in frame deletions. MITF-Mdel was widely expressed in melanocytes, melanoma cell lines and tissues, but almost undetectable in non-melanoma cell lines or PBMC from healthy donors. Publication Status: Online-Only, [RefSeq, PubMed]; Novel mechanisms of MITF regulation identified in a mouse suppressor screen., [RefSeq, PubMed]; The majority of isoforms were found to be broadly expressed, with the M- and Mc-isoforms being tissue-restricted to melanocytes and mast cells, respectively., [RefSeq, PubMed]; The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]., [RefSeq]; Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, MITF phosphorylation by MTOR promotes its inactivation (PubMed:36608670). Upon starvation or lysosomal stress, inhibition of MTOR induces MITF dephosphorylation, resulting in transcription factor activity (PubMed:36608670). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; UVB-induced TRPS1 regulates MITF transcription activity to promote skin pigmentation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DJL2;D3K197;E9PFN0;Q14841;Q9P2V0;Q9P2V1;Q9P2V2;Q9P2Y8", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0046983 protein dimerization activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005765 lysosomal membrane", "go_biological_process": "GO:2001141 regulation of RNA biosynthetic 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:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "O75030-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P03971-1", "uniprot_id": [ { "id": "AMH_HUMAN", "url": "https://www.uniprot.org/uniprot/P03971", "type": "external" } ], "mass": 59195.0, "length": 560, "protein_name": "Anti-Muellerian hormone", "gene_name": "AMH", "organism": "Human", "refseq_name": "anti-Muellerian hormone preproprotein", "refseq_ac": [ { "id": "NP_000470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000470", "type": "external" } ], "gene_names_uniprotkb": "AMH; MIF", "gene_names_refseq": "AMH; MIF; MIS", "protein_names_uniprotkb": "Anti-Muellerian hormone; AMH; MIS; Muellerian-inhibiting factor; Muellerian-inhibiting substance", "protein_names_refseq": "Mullerian inhibiting factor; Mullerian inhibiting substance; anti-Muellerian hormone preproprotein; anti-Muellerian hormone; muellerian-inhibiting factor; muellerian-inhibiting substance", "tax_id": 9606, "disease": "persistent Mullerian duct syndrome (Disease Ontology:DOID:0050791); polycystic ovary syndrome (Disease Ontology:DOID:11612); breast cancer (Disease Ontology:DOID:1612); disorder of sexual development (Disease Ontology:DOID:1923); granulosa cell tumor (Disease Ontology:DOID:2999); ovarian carcinoma (Disease Ontology:DOID:4001); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:268); (R-HSA-201451); (R-HSA-9690406)", "pathway_count": 3, "publication_count": 59, "publication_id_list": "10458166;10587654;10712517;11016919;11121043;11158580;11207191;11278251;11278460;11509558;11571290;11714695;11779505;11779604;12151385;12519765;12592392;12821673;12857866;14742691;1483695;15889150;16672363;17029022;17068149;17311849;17356069;18445271;19664994;20861221;21412441;22899867;28472341;29393594;2974034;30459171;30552336;32938616;34155118;35051231;37217939;3754790;37996919;38286181;38497393;39805014;40596516;7644468;7791754;8119126;8162013;8469238;8653785;8872466;8893010;9136927;9436979;9774680;9815658", "class_list": "", "function": "Association of anti-Mullerian hormone and insulin resistance in adolescent girls with polycystic ovary syndrome., [RefSeq, PubMed]; Dose inhibin B or anti-Mullerian hormone relate to precocious puberty in girls? result of a systematic review and meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Lower serum AMH concentration is correlated with serum IgG1 decreased in the infertile woman: A real-world retrospective study., [RefSeq, PubMed]; The anti-Muellerian hormone (AMH) plays an important role in several reproductive functions (PubMed:14742691, PubMed:34155118, PubMed:3754790, PubMed:8469238). Anti-Muellerian hormone binds and activates AMHR2, its specific type-II receptor, that heterodimerizes with type-I receptors (ACVR1 and BMPR1A) to regulate target gene expression through downstream SMAD protein signal transduction (PubMed:20861221, PubMed:34155118). Produced and secreted by Sertoli cells of the male fetus, anti-Muellerian hormone induces Muellerian duct regression during male fetal sexual differentiation (PubMed:34155118, PubMed:3754790, PubMed:8469238). In female, it is produced by granulosa cells of the preantral and small antral follicles and acts as a negative regulator of the primordial to primary follicle transition and decreases FSH sensitivity of growing follicles (PubMed:14742691). Also plays a role in Leydig cell differentiation and function (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 14, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O75246;Q6GTN3", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005160 transforming growth factor beta receptor binding;GO:0005179 hormone activity;GO:0008083 growth factor activity;GO:0005114 type II transforming growth factor beta receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007530 sex determination;GO:2000355 negative regulation of ovarian follicle development;GO:0007267 cell-cell signaling;GO:0010628 positive regulation of gene expression;GO:0001541 ovarian follicle development", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "P03971-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08493-1", "uniprot_id": [ { "id": "MGP_HUMAN", "url": "https://www.uniprot.org/uniprot/P08493", "type": "external" } ], "mass": 12353.0, "length": 103, "protein_name": "Matrix Gla protein", "gene_name": "MGP", "organism": "Human", "refseq_name": "matrix Gla protein isoform 2 preproprotein", "refseq_ac": [ { "id": "NP_000891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000891", "type": "external" } ], "gene_names_uniprotkb": "MGP; GIG36; MGLAP", "gene_names_refseq": "GIG36; MGLAP; MGP; NTI", "protein_names_uniprotkb": "Matrix Gla protein; Cell growth-inhibiting gene 36 protein; MGP", "protein_names_refseq": "cell growth-inhibiting gene 36 protein; matrix Gla protein isoform 2 preproprotein", "tax_id": 9606, "disease": "prostate carcinoma (Disease Ontology:DOID:10286); calcinosis (Disease Ontology:DOID:182); arteriosclerosis (Disease Ontology:DOID:2349); germinoma (Disease Ontology:DOID:3304); brain infarction (Disease Ontology:DOID:3454); renal cell carcinoma (Disease Ontology:DOID:4450); myocardial infarction (Disease Ontology:DOID:5844); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); Keutel syndrome (MONDO:MONDO:0009495)", "pathway": " (hsa:4256)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;1939157;2216462;22869377;2394711;25576301;27600516;29242379;29331515;29557506;30429286;31154438;31848261;32157095;3387234;35025148;35051231;35318648;35580925;36977707;37187293;37307958;37327028;8061611;9916809", "class_list": "", "function": "1,25-(OH)2D3 participates and modulates airway remodeling by reducing MGP and TGF-beta1 expression in TNF-alpha-induced airway smooth muscle cells., [RefSeq, PubMed]; Assessment of MGP gene expression in cancer and contribution to prognosis., [RefSeq, PubMed]; Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation., [UniProtKB]; LncRNA MIR31HG Regulates Proliferation and Migration by Targeting Matrix Gla Protein in Nonsyndromic Cleft Lip With or Without Cleft Palate., [RefSeq, PubMed]; Matrix Gla Protein drives stemness and tumor initiation in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Reduced APPL1 impairs osteogenic differentiation of mesenchymal stem cells by facilitating MGP expression to disrupt the BMP2 pathway in osteoporosis., [RefSeq, PubMed]; This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "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": "A0M8W5;B2R519;J3KMX7;Q2TU41;Q567P9;Q6ICN5", "ec_number_list": [], "go_molecular_function": "GO:0008147 structural constituent of bone;GO:0005509 calcium ion binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030154 cell differentiation;GO:0001503 ossification;GO:0001502 cartilage condensation;GO:0030500 regulation of bone mineralization", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P08493-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16455-1", "uniprot_id": [ { "id": "MGMT_HUMAN", "url": "https://www.uniprot.org/uniprot/P16455", "type": "external" } ], "mass": 21646.0, "length": 207, "protein_name": "Methylated-DNA--protein-cysteine methyltransferase", "gene_name": "MGMT", "organism": "Human", "refseq_name": "methylated-DNA--protein-cysteine methyltransferase", "refseq_ac": [ { "id": "NP_002403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002403", "type": "external" } ], "gene_names_uniprotkb": "MGMT", "gene_names_refseq": "MGMT", "protein_names_uniprotkb": "Methylated-DNA--protein-cysteine methyltransferase; 2.1.1.63; 6-O-methylguanine-DNA methyltransferase; MGMT; O-6-methylguanine-DNA-alkyltransferase", "protein_names_refseq": "6-O-methylguanine-DNA methyltransferase; O-6-methylguanine-DNA-alkyltransferase; O6-methylguanine-DNA methyltransferase; methylated-DNA--protein-cysteine methyltransferase; methylguanine-DNA methyltransferase", "tax_id": 9606, "disease": "urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); pancreatic endocrine carcinoma (Disease Ontology:DOID:1798); melanoma (Disease Ontology:DOID:1909); colon adenocarcinoma (Disease Ontology:DOID:234); cervix carcinoma (Disease Ontology:DOID:2893); granulosa cell tumor (Disease Ontology:DOID:2999); glioblastoma (Disease Ontology:DOID:3068); oligodendroglioma (Disease Ontology:DOID:3181); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); cholangiocarcinoma (Disease Ontology:DOID:4947); gastrinoma (Disease Ontology:DOID:5577); retinoblastoma (Disease Ontology:DOID:768)", "pathway": " (hsa:4255); (R-HSA-5657655)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10606635;10747039;14691244;15964013;16030105;16633920;16777993;16788379;17234722;17485252;17666372;18812520;1985934;20096652;20192566;21681824;2188979;22627392;22655231;23186163;23481700;2359121;2394694;2405387;24275569;25576301;25785059;26992070;27397612;27846572;28409559;28436299;28832583;29351928;29393594;29557506;29741879;30429286;31373491;31844290;32157095;32350084;32387766;32502341;32938616;33141586;33392160;33537174;33717175;34087483;34509645;34932366;35154160;35580925;36241641;36284347;37938771;38542081;38827324;39029475;39041891;39369843;40596516;6765195;7614699;7766621;7954470;8156986;8202360;8434121;9672037", "class_list": "", "function": "AP-2alpha decreases TMZ resistance of recurrent GBM by downregulating MGMT expression and improving DNA damage., [RefSeq, PubMed]; Adaptive fine-tuning based transfer learning for the identification of MGMT promoter methylation status. Publication Status: Online-Only, [RefSeq, PubMed]; Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutagenesis and toxicity from alkylating agents. The protein catalyzes transfer of methyl groups from O(6)-alkylguanine and other methylated moieties of the DNA to its own molecule, which repairs the toxic lesions. Methylation of the genes promoter has been associated with several cancer types, including colorectal cancer, lung cancer, lymphoma and glioblastoma. [provided by RefSeq, Sep 2015]., [RefSeq]; Constitutional BRCA1 and MGMT Methylation Are Significant Risk Factors for Triple-Negative Breast Cancer and High-Grade Serous Ovarian Cancer in Saudi Women. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) and O4-methylthymine (O4-MeT) in DNA. Repairs the methylated nucleobase in DNA by stoichiometrically transferring the methyl group to a cysteine residue in the enzyme. This is a suicide reaction: the enzyme is irreversibly inactivated., [UniProtKB]; MEN1 Deficiency-Driven Activation of the beta-Catenin-MGMT Axis Promotes Pancreatic Neuroendocrine Tumor Growth and Confers Temozolomide Resistance., [RefSeq, PubMed]; The interplay mechanism between IDH mutation, MGMT-promoter methylation, and PRMT5 activity in the progression of grade 4 astrocytoma: unraveling the complex triad theory. 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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 15, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5VY78", "ec_number_list": [ { "id": "2.1.1.63", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.63", "type": "external" } ], "go_molecular_function": "GO:0003908 methylated-DNA-[protein]-cysteine S-methyltransferase activity;GO:0003677 DNA binding;GO:0046872 metal ion binding;GO:0008168 methyltransferase activity;GO:0009008 DNA-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006281 DNA repair;GO:0043066 negative regulation of apoptotic process;GO:0032259 methylation;GO:2000781 positive regulation of double-strand break repair", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P16455-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q09328-1", "uniprot_id": [ { "id": "MGT5A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q09328", "type": "external" } ], "mass": 84543.0, "length": 741, "protein_name": "Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A", "gene_name": "MGAT5", "organism": "Human", "refseq_name": "alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A", "refseq_ac": [ { "id": "NP_002401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002401", "type": "external" } ], "gene_names_uniprotkb": "MGAT5; GGNT5", "gene_names_refseq": "GNT-VA; GNT-V; MGAT5A; MGAT5; glcNAc-T V", "protein_names_uniprotkb": "Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A; 2.4.1.155; Alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase V; GNT-V; GlcNAc-T V; Mannoside acetylglucosaminyltransferase 5; N-acetylglucosaminyl-transferase V; Secreted GNT-V; Secreted beta-1,6-N-acetylglucosaminyltransferase V", "protein_names_refseq": "N-acetylglucosaminyl-transferase V; alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A; alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase V; mannoside acetylglucosaminyltransferase 5; mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase", "tax_id": 9606, "disease": "proteinuria (Disease Ontology:DOID:576)", "pathway": " (hsa:4249); (R-HSA-9694548); (R-HSA-975577)", "pathway_count": 3, "publication_count": 106, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10395745;10570912;10700233;10766765;11421344;11425186;11530204;11588157;11872751;11901181;12097641;12603328;12765789;15084511;15939404;16434023;16924681;17006639;17021253;17142794;1714903;17488527;18931531;19403558;20117844;22544926;22614033;22915798;23090970;23481700;24190977;24715725;25418920;25502872;25645385;25813380;26811146;27726376;28218747;28228285;28514659;28834231;29242379;29314611;29317506;29557506;29632711;29774024;30140003;30315122;30459171;30524438;30573663;30833945;31611695;31844290;31848261;31998317;32157095;32350084;32363391;32366695;32387766;32518941;32676595;32890705;32938616;32983136;33298915;33310888;33392160;33537174;33592498;33879098;33894774;33936100;33968037;33981976;34117209;34185709;34357683;34405274;34428449;34509645;34528721;34599882;34932366;34961524;35051231;35104505;35154160;35251023;35561310;35580925;36010968;36689079;37074911;37938771;38499842;38665916;7986008;8292036;9054414;9597550", "class_list": "glycogene;glycosyltransferase", "function": "Aberrant N-glycosylation in cancer: MGAT5 and beta1,6-GlcNAc branched N-glycans as critical regulators of tumor development and progression. Review article, [RefSeq, PubMed]; Catalyzes the addition of N-acetylglucosamine (GlcNAc) in beta 1-6 linkage to the alpha-linked mannose of biantennary N-linked oligosaccharides (PubMed:10395745, PubMed:30140003). Catalyzes an important step in the biosynthesis of branched, complex-type N-glycans, such as those found on EGFR, TGFR (TGF-beta receptor) and CDH2 (PubMed:10395745, PubMed:22614033, PubMed:30140003). Via its role in the biosynthesis of complex N-glycans, plays an important role in the activation of cellular signaling pathways, reorganization of the actin cytoskeleton, cell-cell adhesion and cell migration. MGAT5-dependent EGFR N-glycosylation enhances the interaction between EGFR and LGALS3 and thereby prevents rapid EGFR endocytosis and prolongs EGFR signaling. Required for efficient interaction between TGFB1 and its receptor. Enhances activation of intracellular signaling pathways by several types of growth factors, including FGF2, PDGF, IGF, TGFB1 and EGF. MGAT5-dependent CDH2 N-glycosylation inhibits CDH2-mediated homotypic cell-cell adhesion and contributes to the regulation of downstream signaling pathways. Promotes cell migration. Contributes to the regulation of the inflammatory response. MGAT5-dependent TCR N-glycosylation enhances the interaction between TCR and LGALS3, limits agonist-induced TCR clustering, and thereby dampens TCR-mediated responses to antigens. Required for normal leukocyte evasation and accumulation at sites of inflammation (By similarity). Inhibits attachment of monocytes to the vascular endothelium and subsequent monocyte diapedesis (PubMed:22614033)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Glioma stem cells invasive phenotype at optimal stiffness is driven by MGAT5 dependent mechanosensing. Publication Status: Online-Only, [RefSeq, PubMed]; GnT-V-mediated aberrant N-glycosylation of TIMP-1 promotes diabetic retinopathy progression. Publication Status: Online-Only, [RefSeq, PubMed]; N-acetylglucosaminyltransferase-V requires a specific noncatalytic luminal domain for its activity toward glycoprotein substrates., [RefSeq, PubMed]; Promotes proliferation of umbilical vein endothelial cells and angiogenesis, at least in part by promoting the release of the growth factor FGF2 from the extracellular matrix., [UniProtKB, PubMed]; The polymorphisms of FGFR2 and MGAT5 affect the susceptibility to COPD in the Chinese people. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 3, "mined_o_glycosites": 1, "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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 697, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 1, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "D3DP70", "ec_number_list": [ { "id": "2.4.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.155", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.68", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.68", "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:0030145 manganese ion binding;GO:0004864 protein phosphatase inhibitor activity;GO:0030144 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0019082 viral protein processing;GO:0030335 positive regulation of cell migration;GO:0006487 protein N-linked glycosylation;GO:1904894 positive regulation of receptor signaling pathway via STAT", "synthesized_glycan_count": 2831, "hit_score": 12.1, "record_id": "Q09328-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100110010000.111.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q10469-1", "uniprot_id": [ { "id": "MGAT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q10469", "type": "external" } ], "mass": 51550.0, "length": 447, "protein_name": "Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase", "gene_name": "MGAT2", "organism": "Human", "refseq_name": "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase precursor", "refseq_ac": [ { "id": "NP_002399", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002399", "type": "external" } ], "gene_names_uniprotkb": "MGAT2", "gene_names_refseq": "CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2; MGAT2", "protein_names_uniprotkb": "Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase; 2.4.1.143; Beta-1,2-N-acetylglucosaminyltransferase II; GNT-II; GlcNAc-T II; Mannoside acetylglucosaminyltransferase 2; N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II", "protein_names_refseq": "Beta-1,2-N-acetylglucosaminyltransferase II; N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II; UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II; alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase precursor; glcNAc-T II; mannoside acetylglucosaminyltransferase 2; mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase", "tax_id": 9606, "disease": "congenital disorder of glycosylation type II (Disease Ontology:DOID:0050571); congenital disorder of glycosylation type IIa (Disease Ontology:DOID:0070253)", "pathway": " (hsa:4247); (R-HSA-4793952); (R-HSA-9694548); (R-HSA-975578)", "pathway_count": 4, "publication_count": 75, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10094192;10343104;10464296;10814706;10988300;11228641;11445554;12417412;16754854;17175120;17466984;18431515;20112406;20378551;20684000;22105986;22915798;23584533;24714562;25813380;25944901;26154972;26992070;27846572;27920218;28228285;28904123;29242379;29393594;29409697;29632046;29632711;29666272;29769354;30315122;30459171;31492838;31611695;31844290;32265295;32350084;32363391;32366695;32387766;32518941;32676595;33044030;33298915;33310888;33968037;34019948;34117209;34357683;34428449;34528721;34599882;34725712;34961524;35154160;35251023;36280670;38665916;39894887;40307207;40596516;7635144;7650030;7986008;8524845;8808595;9478973;9949196", "class_list": "glycogene;glycosyltransferase", "function": "Golgi N-glycosyltransferases beta-1,2-N-acetylglucosaminyltransferase I, beta-1,2-N-acetylglucosaminyltransferase II, 1,4-galactosyltransferase I, and alpha-2,6-sialyltransferase I form both homo- and heterodimeric enzyme complexes in live cells, [RefSeq, PubMed]; Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature., [RefSeq, PubMed]; Plays an essential role in protein N-glycosylation. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) onto the free terminal mannose moiety in the core structure of the nascent N-linked glycan chain, giving rise to the second branch in complex glycans., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; The recombinant hGnTII was purified from silkworm larval hemolymph in two steps by using tandem affinity purification tags, with a yield of approximately 120 mug from 10 mL hemolymph, and exhibited glycosyltransferase activity and strict substrate specificity. The enzyme was found to be N-glycosylated by the enzymatic cleavage of glycans, while hGnTII expressed in insect cells had not been reported to be glycosylated., [RefSeq, PubMed]; These data suggest that substrate binding by MGAT2 employs both conserved and convergent catalytic subsite modules to provide substrate selectivity and catalysis. More broadly, the MGAT2 active-site architecture demonstrates how glycosyltransferases create complementary modular templates for regiospecific extension of glycan structures in mammalian cells., [RefSeq, PubMed]; UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats)., [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": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 523, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B3KPC5;B3KQM0", "ec_number_list": [ { "id": "2.4.1.101", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.101", "type": "external" }, { "id": "2.4.1.143", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.143", "type": "external" }, { "id": "3.2.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.114", "type": "external" } ], "go_molecular_function": "GO:0008455 alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity;GO:0030145 manganese ion binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005795 Golgi stack", "go_biological_process": "GO:0019082 viral protein processing;GO:0006487 protein N-linked glycosylation;GO:0009312 oligosaccharide biosynthetic process", "synthesized_glycan_count": 8635, "hit_score": 8.7, "record_id": "Q10469-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13164-1", "uniprot_id": [ { "id": "MK07_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13164", "type": "external" } ], "mass": 88386.0, "length": 816, "protein_name": "Mitogen-activated protein kinase 7", "gene_name": "MAPK7", "organism": "Human", "refseq_name": "mitogen-activated protein kinase 7 isoform 1", "refseq_ac": [ { "id": "NP_002740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002740", "type": "external" } ], "gene_names_uniprotkb": "MAPK7; BMK1; ERK5; PRKM7", "gene_names_refseq": "BMK1; ERK4; ERK5; MAPK7; PRKM7", "protein_names_uniprotkb": "Mitogen-activated protein kinase 7; 2.7.11.24; BMK-1; Big MAP kinase 1; ERK-5; Extracellular signal-regulated kinase 5; MAP kinase 7; MAPK 7", "protein_names_refseq": "BMK-1; BMK1 kinase; ERK-5; MAP kinase 7; MAPK 7; big MAP kinase 1; extracellular-signal-regulated kinase 5; mitogen-activated protein kinase 7 isoform 1", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:5598); (R-HSA-198753); (R-HSA-198765); (R-HSA-202670); (R-HSA-2559582); (R-HSA-881907); (R-HSA-8853659)", "pathway_count": 7, "publication_count": 130, "publication_id_list": "10432220;10448070;10548110;10995764;11000521;11002419;11114305;11237011;11237712;11254654;11278431;11340163;11360177;11390647;11470823;11491658;11544482;11739740;11886862;12242309;12628002;12771945;12832467;14679213;14679215;14766744;15044950;15286081;15569713;15716121;15774718;16456541;16626623;17322878;17344846;18267069;18411265;18555777;18555778;18669648;19651622;19664994;19805069;20058876;20351173;20452968;20538799;20667468;20724525;20832753;2183031;21979375;22178396;22564745;22634325;22869143;23428871;23846687;2405250;24706756;25418920;25645385;25689862;26154972;26375851;26992070;28228285;28832583;28904123;29242379;29594152;29632046;30132833;30238007;30315122;30429286;30524438;31092671;31154438;31222486;31844290;32161166;32170057;32387766;32502341;32897882;32938616;33141586;33298915;33691108;33912179;33936100;34509645;35051231;35580925;35801078;36241641;37539861;38113141;38369471;39128596;39151429;7646528;7665556;7759517;8234276;8349705;8384717;8413215;8413306;8617720;8628282;8631863;8637703;8662982;8663426;8674117;8688489;8884985;8939459;9047384;9192684;9299438;9384584;9407096;9491986;9687510;9764818;9790194;9883723", "class_list": "", "function": "An ERK5-PFKFB3 axis regulates glycolysis and represents a therapeutic vulnerability in pediatric diffuse midline glioma., [RefSeq, PubMed]; ERK5 Cooperates With MEF2C to Regulate Nr4a1 Transcription in MA-10 and MLTC-1 Leydig Cells., [RefSeq, PubMed]; ERK5 mediates pro-tumorigenic phenotype in non-small lung cancer cells induced by PGE2., [RefSeq, PubMed]; ERK5 promotes autocrine expression to sustain mitogenic balance for cell fate specification in human pluripotent stem cells., [RefSeq, PubMed]; HuR promotes castration-resistant prostate cancer progression by altering ERK5 activation via posttranscriptional regulation of BCAT1. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in various cellular processes such as proliferation, differentiation and cell survival. The upstream activator of MAPK7 is the MAPK kinase MAP2K5. Upon activation, it translocates to the nucleus and phosphorylates various downstream targets including MEF2C. EGF activates MAPK7 through a Ras-independent and MAP2K5-dependent pathway. As part of the MAPK/ERK signaling pathway, acts as a negative regulator of apoptosis in cardiomyocytes via interaction with STUB1/CHIP and promotion of STUB1-mediated ubiquitination and degradation of ICER-type isoforms of CREM (By similarity). May have a role in muscle cell differentiation. May be important for endothelial function and maintenance of blood vessel integrity. MAP2K5 and MAPK7 interact specifically with one another and not with MEK1/ERK1 or MEK2/ERK2 pathways. Phosphorylates SGK1 at Ser-78 and this is required for growth factor-induced cell cycle progression. Involved in the regulation of p53/TP53 by disrupting the PML-MDM2 interaction., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; The protein encoded by this gene is a member of the 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. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 18, "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": "Q16634;Q59F50;Q6QLU7;Q7L4P4;Q969G1;Q96G51", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "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": "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": "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:0004857 enzyme inhibitor activity;GO:0005524 ATP binding;GO:0051019 mitogen-activated protein kinase binding;GO:0004707 MAP kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016605 PML body", "go_biological_process": "GO:0007165 signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0030154 cell differentiation;GO:0035556 intracellular signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q13164-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16674-1", "uniprot_id": [ { "id": "MIA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16674", "type": "external" } ], "mass": 14509.0, "length": 131, "protein_name": "Melanoma-derived growth regulatory protein", "gene_name": "MIA", "organism": "Human", "refseq_name": "melanoma-derived growth regulatory protein precursor", "refseq_ac": [ { "id": "NP_001189482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189482", "type": "external" } ], "gene_names_uniprotkb": "MIA", "gene_names_refseq": "CD-RAP; MIA1; MIA", "protein_names_uniprotkb": "Melanoma-derived growth regulatory protein; Melanoma inhibitory activity protein", "protein_names_refseq": "melanoma inhibitory activity; melanoma-derived growth regulatory protein precursor; melanoma-derived growth regulatory protein", "tax_id": 9606, "disease": "osteonecrosis (Disease Ontology:DOID:10159)", "pathway": " (hsa:8190)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;11331761;12230496;15340161;19807924;22419821;23481700;25645385;25892735;27600516;28565914;28870930;29786170;31172672;31222486;31986890;32157095;33663104;38253038;7923218;8550608", "class_list": "", "function": "Elicits growth inhibition on melanoma cells in vitro as well as some other neuroectodermal tumors, including gliomas., [UniProtKB]; MIA had a slightly superior sensitivity to detect progressive disease compared to S100 and seems to be more useful in monitoring of patients with metastatic melanoma receiving immunotherapy, [RefSeq, PubMed]; MIA is a regulator of cellular senescence in human and murine melanocytes., [RefSeq, PubMed]; The clinical significance of MIA gene in tumorigenesis of lung cancer., [RefSeq, PubMed]; The molecular basis of the interaction of MIA with the Hep II domain of fibronectin based on nuclear magnetic resonance spectroscopic binding assays. Publication Status: Online-Only, [RefSeq, PubMed]; The value of melanoma inhibitory activity and LDH with melanoma patients in a Chinese population., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6FHV3", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q16674-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4G0Z9-1", "uniprot_id": [ { "id": "MCMD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4G0Z9", "type": "external" } ], "mass": 76219.0, "length": 681, "protein_name": "Minichromosome maintenance domain-containing protein 2", "gene_name": "MCMDC2", "organism": "Human", "refseq_name": "minichromosome maintenance domain-containing protein 2 isoform c", "refseq_ac": [ { "id": "NP_001129633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129633", "type": "external" } ], "gene_names_uniprotkb": "MCMDC2; C8orf45", "gene_names_refseq": "C8orf45; MCMDC2", "protein_names_uniprotkb": "Minichromosome maintenance domain-containing protein 2; MCM domain-containing protein 2", "protein_names_refseq": "MCM domain-containing protein 2; MCM domain-containing protein C8orf45; minichromosome maintenance domain-containing protein 2 isoform c; minichromosome maintenance domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:157777)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;18669648;25576301;29393594;32387766;32488085;33592498;35051231;35494241;36215666", "class_list": "", "function": "Plays an important role in meiotic recombination and associated DNA double-strand break repair., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "B4DYZ3;B4DZM4;B4E293;Q6P533;Q7Z3P4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0051321 meiotic cell cycle;GO:0000727 double-strand break repair via break-induced replication", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q4G0Z9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5I0G3-1", "uniprot_id": [ { "id": "MDH1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5I0G3", "type": "external" } ], "mass": 58651.0, "length": 518, "protein_name": "Putative malate dehydrogenase 1B", "gene_name": "MDH1B", "organism": "Human", "refseq_name": "putative malate dehydrogenase 1B isoform a", "refseq_ac": [ { "id": "NP_001034934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034934", "type": "external" } ], "gene_names_uniprotkb": "MDH1B", "gene_names_refseq": "MDH1B; RP11-95H11", "protein_names_uniprotkb": "Putative malate dehydrogenase 1B; 1.1.1.-", "protein_names_refseq": "malate dehydrogenase 1B, NAD (soluble); putative malate dehydrogenase 1B isoform a; putative malate dehydrogenase 1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:130752)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;21248752;23481700;25892735;29769354;30410026;31844290;32357974;35879546;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": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K8M1;Q53TK9;Q8IV51", "ec_number_list": [], "go_molecular_function": "GO:0030060 L-malate dehydrogenase (NAD+) activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;GO:0016615 malate dehydrogenase activity", "go_cellular_component": "", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006107 oxaloacetate metabolic process;GO:0019674 NAD+ metabolic process;GO:0006108 malate metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q5I0G3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JSS6-1", "uniprot_id": [ { "id": "MEIG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JSS6", "type": "external" } ], "mass": 10795.0, "length": 88, "protein_name": "Meiosis expressed gene 1 protein homolog", "gene_name": "MEIG1", "organism": "Human", "refseq_name": "meiosis expressed gene 1 protein homolog", "refseq_ac": [ { "id": "NP_001074305", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074305", "type": "external" } ], "gene_names_uniprotkb": "MEIG1", "gene_names_refseq": "MEIG1; SPATA39; bA2K17.3", "protein_names_uniprotkb": "Meiosis expressed gene 1 protein homolog", "protein_names_refseq": "meiosis expressed gene 1 homolog; meiosis expressed gene 1 protein homolog; spermatogenesis associated 39", "tax_id": 9606, "disease": "", "pathway": " (hsa:644890)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "30379171;33529594;35768906;39894887", "class_list": "", "function": "Crystal structure of human PACRG in complex with MEIG1 reveals roles in axoneme formation and tubulin binding., [RefSeq, PubMed]; Essential for spermiogenesis., [UniProtKB, UniProtKB]; Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate with sperm motility in idiopathic infertility., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0002177 manchette", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5JSS6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15121-1", "uniprot_id": [ { "id": "PEA15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15121", "type": "external" } ], "mass": 15040.0, "length": 130, "protein_name": "Astrocytic phosphoprotein PEA-15", "gene_name": "PEA15", "organism": "Human", "refseq_name": "astrocytic phosphoprotein PEA-15 isoform a", "refseq_ac": [ { "id": "NP_001284505", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284505", "type": "external" } ], "gene_names_uniprotkb": "PEA15", "gene_names_refseq": "HMAT1; HUMMAT1H; MAT1H; MAT1; PEA-15; PEA15; PED-PEA15; PED/PEA15; PED", "protein_names_uniprotkb": "Astrocytic phosphoprotein PEA-15; 15 kDa phosphoprotein enriched in astrocytes; PED; Phosphoprotein enriched in diabetes", "protein_names_refseq": "15 kDa phosphoprotein enriched in astrocytes; astrocytic phosphoprotein PEA-15 isoform a; astrocytic phosphoprotein PEA-15; homolog of mouse MAT-1 oncogene; mammary transforming gene 1, mouse, homolog of; phosphoprotein enriched in astrocytes 15; phosphoprotein enriched in diabetes; proliferation and apoptosis adaptor 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:8682); (R-HSA-112409); (R-HSA-5673001)", "pathway_count": 3, "publication_count": 145, "publication_id_list": "10442631;10508167;10607908;10869344;11027663;11090077;11136978;11237011;11313946;11546808;11702783;12032311;12094235;12121613;12808093;14506247;14707138;15356145;1545823;15546878;15916534;15917297;16627759;16684964;17081983;1716764;17208316;17287340;17700518;17998941;18212344;18314633;18452278;18491316;18578522;18669648;18767875;18775330;1898771;19279408;19382910;19413330;19531639;19651622;19664995;19920141;20032303;20068231;20166139;20452983;20463170;20478380;21102635;21136679;21372320;21406692;21779497;21779505;21993244;22105357;22569528;22589270;22750304;23103841;23186163;23303910;23443682;23552738;23575685;24275569;24715725;24897931;24937142;25096718;25219551;25781681;25802875;26085527;26154972;26992070;27846572;27862975;28778966;28904123;29437277;29557506;30410026;30569123;30779550;30833945;31135801;31154438;31222486;31396050;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33246486;33298915;33392160;33592498;33936100;33968037;33981976;34087483;34185709;34241740;34405274;34509645;34907034;34932366;34997083;35051231;35580925;36010968;36284347;37938771;39894887;6148751;7809086;7935463;7972015;8052307;8394845;8493579;8662970;8665852;8710374;8939933;9604935;9670003;9721757;9927426", "class_list": "", "function": "Blocks Ras-mediated inhibition of integrin activation and modulates the ERK MAP kinase cascade. Inhibits RPS6KA3 activities by retaining it in the cytoplasm (By similarity). Inhibits both TNFRSF6- and TNFRSF1A-mediated CASP8 activity and apoptosis. Regulates glucose transport by controlling both the content of SLC2A1 glucose transporters on the plasma membrane and the insulin-dependent trafficking of SLC2A4 from the cell interior to the surface., [UniProtKB, PubMed, PubMed]; PEA-15 engages in allosteric interactions using a common scaffold in a phosphorylation-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; Strategies are being devised to target key signaling events in PED/PEA-15 action aimed at improving glucose tolerance and at facilitating cancer cell death. Review article, [RefSeq, PubMed]; This gene encodes a death effector domain-containing protein that functions as a negative regulator of apoptosis. The encoded protein is an endogenous substrate for protein kinase C. This protein is also overexpressed in type 2 diabetes mellitus, where it may contribute to insulin resistance in glucose uptake. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]; Transcription Factor FOSL1 Enhances Drug Resistance of Breast Cancer through DUSP7-Mediated Dephosphorylation of PEA15., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B1AKZ3;O00511", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005875 microtubule associated complex", "go_biological_process": "GO:0000165 MAPK cascade;GO:0006915 apoptotic process;GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;GO:0046325 negative regulation of D-glucose import;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q15121-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UEU0-1", "uniprot_id": [ { "id": "VTI1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UEU0", "type": "external" } ], "mass": 26688.0, "length": 232, "protein_name": "Vesicle transport through interaction with t-SNAREs homolog 1B", "gene_name": "VTI1B", "organism": "Human", "refseq_name": "vesicle transport through interaction with t-SNAREs homolog 1B", "refseq_ac": [ { "id": "NP_006361", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006361", "type": "external" } ], "gene_names_uniprotkb": "VTI1B; VTI1L1; VTI1L; VTI1; VTI2", "gene_names_refseq": "VTI1-LIKE; VTI1B; VTI1L; VTI1; VTI2; v-SNARE; vti1-rp1", "protein_names_uniprotkb": "Vesicle transport through interaction with t-SNAREs homolog 1B; Vesicle transport v-SNARE protein Vti1-like 1; Vti1-rp1", "protein_names_refseq": "vesicle transport through interaction with t-SNAREs homolog 1B; vesicle transport v-SNARE protein Vti1-like 1; vesicle-associated soluble NSF attachment protein receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10490); (R-HSA-114608)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "11237011;1435334;14630798;15297306;18033301;18578522;18691976;19901323;21388490;22223895;23186163;23217709;23640497;24129315;28832583;29237092;29557506;30429286;31154438;32350084;32488085;32983136;33112705;33592498;33912179;33968037;34433824;35154160;35561310;40596516;6457647;8467233;9446565;9636656", "class_list": "", "function": "PTPN9-mediated dephosphorylation of VTI1B promotes ATG16L1 precursor fusion and autophagosome formation., [RefSeq, PubMed]; SNAREs (soluble N-ethylmaleimide-sensitive factor-attachment protein receptors) are essential proteins for intracellular membrane fusion. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four-helix bundle whose assembly releases energy that drives membrane fusion. The core SNARE complex typically consists of four alpha-helical domains, three from target membrane SNAREs (t-SNAREs) and one from a vesicle SNARE (v-SNARE) (PubMed:21388490, PubMed:23217709). On late endosomes, regulates trafficking from late endosomes to the lysosome (Probable)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 8, "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": "O43547;Q96J28", "ec_number_list": [], "go_molecular_function": "GO:0019869 chloride channel inhibitor activity;GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0031093 platelet alpha granule lumen;GO:0043025 neuronal cell body", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016236 macroautophagy;GO:0016192 vesicle-mediated transport;GO:0061025 membrane fusion;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9UEU0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYX0-1", "uniprot_id": [ { "id": "ZN679_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYX0", "type": "external" } ], "mass": 47179.0, "length": 411, "protein_name": "Zinc finger protein 679", "gene_name": "ZNF679", "organism": "Human", "refseq_name": "zinc finger protein 679", "refseq_ac": [ { "id": "NP_699194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699194", "type": "external" } ], "gene_names_uniprotkb": "ZNF679", "gene_names_refseq": "ZNF679", "protein_names_uniprotkb": "Zinc finger protein 679", "protein_names_refseq": "hypothetical protein MGC42415; zinc finger protein 679", "tax_id": 9606, "disease": "", "pathway": " (hsa:168417); (R-HSA-212436)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;31217245;31844290;32387766;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8IYX0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49368-1", "uniprot_id": [ { "id": "TCPG_HUMAN", "url": "https://www.uniprot.org/uniprot/P49368", "type": "external" } ], "mass": 60534.0, "length": 545, "protein_name": "T-complex protein 1 subunit gamma", "gene_name": "CCT3", "organism": "Human", "refseq_name": "T-complex protein 1 subunit gamma isoform c", "refseq_ac": [ { "id": "NP_001008800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008800", "type": "external" } ], "gene_names_uniprotkb": "CCT3; CCTG; TRIC5", "gene_names_refseq": "CCT-gamma; CCT3; CCTG; NEDSVH; PIG48; TCP-1-gamma; TRIC5", "protein_names_uniprotkb": "T-complex protein 1 subunit gamma; 3.6.1.-; CCT-gamma; Chaperonin containing T-complex polypeptide 1 subunit 3; TCP-1-gamma; hTRiC5", "protein_names_refseq": "T-complex protein 1 subunit gamma isoform c; T-complex protein 1 subunit gamma; T-complex protein 1, gamma subunit; TCP1 (t-complex-1) ring complex, polypeptide 5; chaperonin containing T-complex polypeptide 1 subunit 3; chaperonin containing TCP1, subunit 3 (gamma); hTRiC5", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036); neurodevelopmental disorder with speech or visual impairment and brain hypomyelination (MONDO:MONDO:0976125)", "pathway": " (hsa:7203); (R-HSA-389957); (R-HSA-389960); (R-HSA-390450); (R-HSA-390471); (R-HSA-5620922); (R-HSA-6814122)", "pathway_count": 7, "publication_count": 173, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11252952;12502735;12586295;14532270;14654843;15258860;15314642;15889144;16408927;16702223;16717095;17574030;17924679;18775504;18991276;19011634;19081074;19376773;19421068;19575670;19608861;19664994;19690332;20068231;20080638;20112406;20233871;20603001;21098288;21406692;21427764;21993680;21995946;22072986;22139371;22389062;22424782;22500027;22617051;22645359;23186163;23351793;23481700;23637185;23747015;24275569;24296415;24366607;24397554;24714562;24715725;24756126;25114211;25342745;25443296;25446516;25467444;25502872;25505266;25576301;25645385;25659125;25675501;25810538;25880248;26024233;26154972;26375851;26728094;26758079;26811146;26853435;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29786170;30315122;30397120;30410026;30779550;30833945;31020640;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33144677;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34093574;34171305;34357683;34405274;34433824;34509645;34561969;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35449234;35561310;35580925;36010968;36215666;36241641;36284347;36493755;37193829;37217939;37833621;37938771;38360074;38665916;39480921;40914422;8001976;8573069;9153422;9819444", "class_list": "", "function": "Among ten hepatocellular carcinoma cases with amplicon 1q21-q22, significant gene expression level of JTB, SHC1, CCT3 and COPA in the tumors than the paired adjacent non-malignant liver tissues., [RefSeq, PubMed]; Circular RNA CCT3 is a unique molecular marker in bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis (PubMed:25467444, PubMed:36493755, PubMed:35449234, PubMed:37193829). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Dysfunction of CCT3-associated network signals for the critical state during progression of hepatocellular carcinoma., [RefSeq, PubMed]; The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "A6NE14;Q5SZY1;Q9BR64", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "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": "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": "2.7.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.91", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "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:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005874 microtubule;GO:0070062 extracellular exosome;GO:0044297 cell body", "go_biological_process": "GO:1904871 positive regulation of protein localization to Cajal body;GO:0032212 positive regulation of telomere maintenance via telomerase;GO:0050821 protein stabilization;GO:0006457 protein folding;GO:1904874 positive regulation of telomerase RNA localization to Cajal body", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "P49368-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q147U1-1", "uniprot_id": [ { "id": "ZN846_HUMAN", "url": "https://www.uniprot.org/uniprot/Q147U1", "type": "external" } ], "mass": 60552.0, "length": 533, "protein_name": "Zinc finger protein 846", "gene_name": "ZNF846", "organism": "Human", "refseq_name": "zinc finger protein 846 isoform 1", "refseq_ac": [ { "id": "NP_001071092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071092", "type": "external" } ], "gene_names_uniprotkb": "ZNF846", "gene_names_refseq": "ZNF846", "protein_names_uniprotkb": "Zinc finger protein 846", "protein_names_refseq": "zinc finger protein 420 pseudogene; zinc finger protein 846 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:162993)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;18669648;30429286;32157095;35051231;35580925", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A8K0H1;B3KUP1", "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": 0.7, "record_id": "Q147U1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14593-1", "uniprot_id": [ { "id": "ZN273_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14593", "type": "external" } ], "mass": 64971.0, "length": 569, "protein_name": "Zinc finger protein 273", "gene_name": "ZNF273", "organism": "Human", "refseq_name": "zinc finger protein 273 isoform 1", "refseq_ac": [ { "id": "NP_066971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066971", "type": "external" } ], "gene_names_uniprotkb": "ZNF273", "gene_names_refseq": "HZF9; ZNF273", "protein_names_uniprotkb": "Zinc finger protein 273; Zinc finger protein HZF9", "protein_names_refseq": "zinc finger protein 273 isoform 1; zinc finger protein 9; zinc finger protein HZF9", "tax_id": 9606, "disease": "", "pathway": " (hsa:10793); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 42, "publication_id_list": "10235266;10330177;11237011;11395415;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;19413330;2028256;2163759;25274305;26813693;26992070;28273063;28832583;28834231;28855257;29493099;31289231;31427381;32157095;32357974;33912179;34185709;35051231;35580925;36010968;7865130;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with 13 C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B3KQZ5;Q6P3V4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q14593-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYI8-1", "uniprot_id": [ { "id": "ZN440_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYI8", "type": "external" } ], "mass": 69106.0, "length": 595, "protein_name": "Zinc finger protein 440", "gene_name": "ZNF440", "organism": "Human", "refseq_name": "zinc finger protein 440", "refseq_ac": [ { "id": "NP_689570", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689570", "type": "external" } ], "gene_names_uniprotkb": "ZNF440", "gene_names_refseq": "ZNF440", "protein_names_uniprotkb": "Zinc finger protein 440", "protein_names_refseq": "zinc finger protein 440", "tax_id": 9606, "disease": "", "pathway": " (hsa:126070); (R-HSA-212436)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26992070;27846572;27862975;27920218;28904123;29493099;31217245;31844290;32157095;32387766;33347923;33392160;33633747;33968037;35051231;35580925;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; Zinc finger protein-440 promotes cartilage degenerative mechanisms in human facet and knee osteoarthritis chondrocytes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8N1R9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8IYI8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14558-1", "uniprot_id": [ { "id": "KPRA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14558", "type": "external" } ], "mass": 39394.0, "length": 356, "protein_name": "Phosphoribosyl pyrophosphate synthase-associated protein 1", "gene_name": "PRPSAP1", "organism": "Human", "refseq_name": "phosphoribosyl pyrophosphate synthase-associated protein 1 isoform 1", "refseq_ac": [ { "id": "NP_002757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002757", "type": "external" } ], "gene_names_uniprotkb": "PRPSAP1", "gene_names_refseq": "PAP39; PRPSAP1", "protein_names_uniprotkb": "Phosphoribosyl pyrophosphate synthase-associated protein 1; 39 kDa phosphoribosypyrophosphate synthase-associated protein; PAP39; PRPP synthase-associated protein 1", "protein_names_refseq": "39 kDa phosphoribosypyrophosphate synthase-associated protein; PRPP synthase-associated protein 1; phosphoribosyl pyrophosphate synthase-associated protein 1 isoform 1; phosphoribosyl pyrophosphate synthase-associated protein 1", "tax_id": 9606, "disease": "X-linked nonsyndromic deafness (Disease Ontology:DOID:0050566); Arts syndrome (Disease Ontology:DOID:0050647); Charcot-Marie-Tooth disease X-linked recessive 5 (Disease Ontology:DOID:0110210)", "pathway": " (hsa:5635)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18669648;23186163;24275569;24714562;24715725;25418920;25576301;25892735;26728094;26992070;27600516;28832583;28904123;29242379;29557506;29786170;30410026;30833945;31154438;31222486;31844290;31848261;32157095;32387766;32502341;32897882;32938616;32983136;33298915;33633747;33691108;33717175;33912179;33968037;33981976;34171305;34229054;34357683;34509645;34932366;35051231;35580925;36010968;37316325;37938771;8611620", "class_list": "", "function": "Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis., [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": 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": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R6M4;Q96H06", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004857 enzyme inhibitor activity;GO:0042802 identical protein binding;GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006139 nucleobase-containing compound metabolic process;GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process;GO:0006164 purine nucleotide biosynthetic process;GO:0009165 nucleotide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q14558-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41222-1", "uniprot_id": [ { "id": "PTGDS_HUMAN", "url": "https://www.uniprot.org/uniprot/P41222", "type": "external" } ], "mass": 21029.0, "length": 190, "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "organism": "Human", "refseq_name": "prostaglandin-H2 D-isomerase precursor", "refseq_ac": [ { "id": "NP_000945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000945", "type": "external" } ], "gene_names_uniprotkb": "PTGDS; PDS", "gene_names_refseq": "L-PGDS; LPGDS; PDS; PGD2; PGDS2; PGDS; PTGDS", "protein_names_uniprotkb": "Prostaglandin-H2 D-isomerase; 5.3.99.2; Beta-trace protein; Cerebrin-28; Glutathione-independent PGD synthase; L-PGDS; Lipocalin-type prostaglandin-D synthase; PGD2 synthase; PGDS2; PGDS; Prostaglandin-D2 synthase", "protein_names_refseq": "PGD2 synthase; beta-trace protein; cerebrin-28; glutathione-independent PGD synthase; glutathione-independent PGD synthetase; lipocalin-type prostaglandin D synthase; prostaglandin D2 synthase 21kDa (brain); prostaglandin-H2 D-isomerase precursor; prostaglandin-H2 D-isomerase; testis tissue sperm-binding protein Li 63n", "tax_id": 9606, "disease": "sensorineural hearing loss (Disease Ontology:DOID:10003); hypertension (Disease Ontology:DOID:10763); nephrosclerosis (Disease Ontology:DOID:11664); carotid artery disease (Disease Ontology:DOID:3407); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5730); (R-HSA-2162123); (R-HSA-9690406)", "pathway_count": 3, "publication_count": 101, "publication_id_list": "10377455;10462696;10622721;10922363;10966456;11207191;11237011;11278460;11287775;11297515;11465543;11669522;11672424;11882588;12627223;12835322;1380156;1385416;14979715;15047184;15115769;15889150;16303743;16335952;16475787;16828555;17259069;1726844;17449869;17641676;18006499;18445271;18493841;18682561;19000823;1902577;19139490;19159218;19838169;20036328;20667974;20950588;20954982;21412441;21467029;22171320;22899867;23090970;23234360;23719902;24190977;26791533;28472341;28657654;29391424;29557506;29741879;30237853;30429286;30552336;31154438;31844290;31848261;32157095;32938616;34743203;36762787;36949072;37074911;37526190;3862115;39289451;3954355;4514999;4521806;4776443;5284360;7005231;7525874;7552725;7689714;7692978;7925341;7947975;8175750;8336134;8336140;8599604;8674187;8761996;8901870;9065498;9139685;9162076;9219313;9405674;9475419;9626023;9774680;9815658;9844724", "class_list": "", "function": "Catalyzes the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation (PubMed:20667974). Involved in a variety of CNS functions, such as sedation, NREM sleep and PGE2-induced allodynia, and may have an anti-apoptotic role in oligodendrocytes. Binds small non-substrate lipophilic molecules, including biliverdin, bilirubin, retinal, retinoic acid and thyroid hormone, and may act as a scavenger for harmful hydrophobic molecules and as a secretory retinoid and thyroid hormone transporter. Possibly involved in development and maintenance of the blood-brain, blood-retina, blood-aqueous humor and blood-testis barrier. It is likely to play important roles in both maturation and maintenance of the central nervous system and male reproductive system (PubMed:20667974, PubMed:9475419). Involved in PLA2G3-dependent maturation of mast cells. PLA2G3 is secreted by immature mast cells and acts on nearby fibroblasts upstream to PTDGS to synthesize PGD2, which in turn promotes mast cell maturation and degranulation via PTGDR (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Glycoprotein PTGDS promotes tumorigenesis of diffuse large B-cell lymphoma by MYH9-mediated regulation of Wnt-beta-catenin-STAT3 signaling., [RefSeq, PubMed]; Leveraging cell death patterns to predict metastasis in prostate adenocarcinoma and targeting PTGDS for tumor suppression. Erratum:[Sci Rep. 2024 Nov 28;14(1):29593. doi: 10.1038/s41598-024-81267-4. PMID: 39609588] Publication Status: Online-Only, [RefSeq, PubMed]; PGD2/PTGDR2 Signal Affects the Viability, Invasion, Apoptosis, and Stemness of Gastric Cancer Stem Cells and Prevents the Progression of Gastric Cancer., [RefSeq, PubMed]; Sex-differences in prostaglandin signaling: a semi-systematic review and characterization of PTGDS expression in human sensory neurons. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a glutathione-independent prostaglandin D synthase that catalyzes the conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2). PGD2 functions as a neuromodulator as well as a trophic factor in the central nervous system. PGD2 is also involved in smooth muscle contraction/relaxation and is a potent inhibitor of platelet aggregation. This gene is preferentially expressed in brain. Studies with transgenic mice overexpressing this gene suggest that this gene may be also involved in the regulation of non-rapid eye movement sleep. [provided by RefSeq, Jul 2008]., [RefSeq]; Thermodynamic stability of human lipocalin-type prostaglandin D synthase under various pH conditions., [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 222, "disease_count": 5, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2R727;Q5SQ10;Q7M4P3;Q9UC22;Q9UCC9;Q9UCD9", "ec_number_list": [ { "id": "5.3.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.2", "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:0004667 prostaglandin-D synthase activity;GO:0005504 fatty acid binding;GO:0005501 retinoid binding;GO:0036094 small molecule binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005791 rough endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0031965 nuclear membrane", "go_biological_process": "GO:0045187 regulation of circadian sleep/wake cycle, sleep;GO:0051384 response to glucocorticoid;GO:0019371 cyclooxygenase pathway;GO:0010467 gene expression;GO:0001516 prostaglandin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 33.3, "record_id": "P41222-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4F7-1", "uniprot_id": [ { "id": "RN175_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4F7", "type": "external" } ], "mass": 38266.0, "length": 328, "protein_name": "RING finger protein 175", "gene_name": "RNF175", "organism": "Human", "refseq_name": "RING finger protein 175", "refseq_ac": [ { "id": "NP_775933", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775933", "type": "external" } ], "gene_names_uniprotkb": "RNF175", "gene_names_refseq": "RNF175", "protein_names_uniprotkb": "RING finger protein 175", "protein_names_refseq": "RING finger protein 175", "tax_id": 9606, "disease": "", "pathway": " (hsa:285533)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;19773279;19913121;20628086;21048031;28228285;29351928;32387766;32502341;34509645;35051231;37938771", "class_list": "", "function": "Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "C9JL66;Q8NB61", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8N4F7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43451-2", "uniprot_id": [ { "id": "MGA_HUMAN", "url": "https://www.uniprot.org/uniprot/O43451", "type": "external" } ], "mass": 312022.0, "length": 2753, "protein_name": "Maltase-glucoamylase", "gene_name": "MGAM", "organism": "Human", "refseq_name": "maltase-glucoamylase isoform 2", "refseq_ac": [ { "id": "NP_004659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004659", "type": "external" } ], "gene_names_uniprotkb": "MGAM; MGAML; MGA", "gene_names_refseq": "MGAM; MGA; MG", "protein_names_uniprotkb": "Maltase-glucoamylase; 3.2.1.20; Alpha-1,4-glucosidase", "protein_names_refseq": "alpha-1,4-glucosidase; brush border hydrolase; maltase-glucoamylase (alpha-glucosidase); maltase-glucoamylase isoform 2; maltase-glucoamylase, intestinal", "tax_id": 9606, "disease": "", "pathway": " (hsa:8972); (R-HSA-189085); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10769135;11085997;12547908;12692040;14616060;15299664;16584180;1697585;17485087;18036614;18356321;18824549;19241384;19435888;19955176;20039683;20356844;22058037;23090970;23650620;24190977;24309898;2452973;25645385;25776870;27480812;29391424;29548257;30459171;30779550;31154438;3121301;3143729;3227291;32387766;37074911;3800897;3897250;40596516;4737205;5104075;6466686;7487100;7836450;7906143;807575;8692836;8951031;9427547;9446624", "class_list": "glycogene;glycosylhydrolase", "function": "Alpha-(1,4) exo-glucosidase involved in breakdown of dietary starch oligosaccharides in small intestine. Cleaves the non-reducing alpha-(1,4)-linked glucose residue in linear dextrins with retention of anomeric center stereochemistry (PubMed:12547908, PubMed:18036614, PubMed:18356321, PubMed:22058037, PubMed:27480812). Mainly hydrolyzes short length oligomaltoses having two to seven glucose residues (PubMed:12547908, PubMed:18036614, PubMed:18356321, PubMed:22058037, PubMed:27480812). Can cleave alpha-(1,2), alpha-(1,3) and alpha-(1,6) glycosidic linkages with lower efficiency, whereas beta glycosidic linkages are usually not hydrolyzed (PubMed:27480812)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Genetic analysis of MGAM, exon boundaries, and chromosome mapping, [RefSeq, PubMed]; MGAM, or nearby regulatory elements, may be involved in the etiology of oral clefts., [RefSeq, PubMed]; Mechanistic Pathway on Human alpha-Glucosidase Maltase-Glucoamylase Unveiled by QM/MM Calculations, [RefSeq, PubMed]; Raw starch granule degradation with recombinanat human MGAM indicates that pancreatic alpha-amylase hydrolysis is not a requirement for native starch digestion in the human small intestine., [RefSeq, PubMed]; This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 11, "predicted_n_glycosites": 9, "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": 11, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 10, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 13, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 13, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 3790, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 112, "disease_count": 0, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "E7ER45;Q0VAX6;Q75ME7;Q86UM5", "ec_number_list": [ { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "3.2.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.20", "type": "external" }, { "id": "3.4.21.73", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.73", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "3.2.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.10", "type": "external" }, { "id": "3.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.48", "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": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.78", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "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:0004558 alpha-1,4-glucosidase activity;GO:0016160 amylase activity;GO:0003824 catalytic activity;GO:0030246 carbohydrate binding;GO:0004574 oligo-1,6-glucosidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0070821 tertiary granule membrane;GO:0016324 apical plasma membrane;GO:0101003 ficolin-1-rich granule membrane", "go_biological_process": "GO:0005983 starch catabolic process;GO:0000025 maltose catabolic process;GO:1901027 dextrin catabolic process", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "O43451-2", "record_type": "protein", "filter_code": "0000000.1100101.001000.000000000001000000.1100000011001.101.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IV72-1", "uniprot_id": [ { "id": "ZN425_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IV72", "type": "external" } ], "mass": 87721.0, "length": 752, "protein_name": "Zinc finger protein 425", "gene_name": "ZNF425", "organism": "Human", "refseq_name": "zinc finger protein 425", "refseq_ac": [ { "id": "NP_001001661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001661", "type": "external" } ], "gene_names_uniprotkb": "ZNF425", "gene_names_refseq": "ZNF425", "protein_names_uniprotkb": "Zinc finger protein 425", "protein_names_refseq": "zinc finger protein 425", "tax_id": 9606, "disease": "", "pathway": " (hsa:155054); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "10235266;10330177;11237011;11395415;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;2028256;21266108;2163759;24715725;25274305;26813693;28273063;28832583;29242379;30379171;30429286;31289231;31427381;31844290;31848261;32157095;32938616;35051231;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "Acts as a transcriptional repressor., [UniProtKB, PubMed]; Over-expression of ZNF425 inhibits the transcriptional activities of SRE, AP-1, and SRF. Deletion analysis indicates that the C2H2 domain is the main region responsible for the 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPM1;Q08AG3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q6IV72-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BW11-1", "uniprot_id": [ { "id": "MAD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BW11", "type": "external" } ], "mass": 23477.0, "length": 206, "protein_name": "Max dimerization protein 3", "gene_name": "MXD3", "organism": "Human", "refseq_name": "max dimerization protein 3 isoform b", "refseq_ac": [ { "id": "NP_001136407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136407", "type": "external" } ], "gene_names_uniprotkb": "MXD3; BHLHC13; MAD3", "gene_names_refseq": "BHLHC13; MAD3; MXD3; MYX", "protein_names_uniprotkb": "Max dimerization protein 3; Class C basic helix-loop-helix protein 13; Max dimerizer 3; Max-associated protein 3; Max-interacting transcriptional repressor MAD3; Myx; bHLHc13", "protein_names_refseq": "Max-associated protein 3; Max-interacting transcriptional repressor MAD3; class C basic helix-loop-helix protein 13; max dimerization protein 3 isoform b; max dimerizer 3", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:83463)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;24714562;25505266;26375851;26728094;26811146;26992070;27846572;27920218;28419087;28832583;28904123;29242379;29632046;31844290;32157095;32502341;32938616;33592498;33912179;33968037;34943942", "class_list": "", "function": "MXD3 Promotes Obesity and the Androgen Receptor Signaling Pathway in Gender-Disparity Hepatocarcinogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Results indicate that MXD3 is a potential new target and that the use of MXD3 siRNA nanocomplexes is a novel therapeutic approach for neuroblastoma, [RefSeq, PubMed]; This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.[provided by RefSeq, Dec 2008]., [RefSeq]; Transcriptional repressor. Binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4E0J1;Q53HK1;Q7Z4Y0;Q8NDJ7;Q96ME3", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9BW11-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55851-1", "uniprot_id": [ { "id": "UCP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P55851", "type": "external" } ], "mass": 33229.0, "length": 309, "protein_name": "Dicarboxylate carrier SLC25A8", "gene_name": "UCP2", "organism": "Human", "refseq_name": "dicarboxylate carrier SLC25A8 isoform a", "refseq_ac": [ { "id": "NP_003346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003346", "type": "external" } ], "gene_names_uniprotkb": "UCP2; SLC25A8", "gene_names_refseq": "BMIQ4; SLC25A8; UCP2; UCPH", "protein_names_uniprotkb": "Dicarboxylate carrier SLC25A8; Mitochondrial uncoupling protein 2; Solute carrier family 25 member 8; UCP 2; UCPH", "protein_names_refseq": "dicarboxylate carrier SLC25A8 isoform a; dicarboxylate carrier SLC25A8; mitochondrial uncoupling protein 2; solute carrier family 25 member 8; uncoupling protein 2 (mitochondrial, proton carrier)", "tax_id": 9606, "disease": "polycystic liver disease (Disease Ontology:DOID:0050770); stroke (Disease Ontology:DOID:0051061); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); hypertension (Disease Ontology:DOID:10763); Huntington's disease (Disease Ontology:DOID:12858); obstructive jaundice (Disease Ontology:DOID:13603); hypothyroidism (Disease Ontology:DOID:1459); transient cerebral ischemia (Disease Ontology:DOID:224); carotid artery disease (Disease Ontology:DOID:3407); congestive heart failure (Disease Ontology:DOID:6000); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); diabetic neuropathy (Disease Ontology:DOID:9743); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7351); (R-HSA-167826)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10082652;11171965;11237011;11278935;11381268;11709078;22524567;24395786;25418920;25576301;26154972;26992070;27846572;27920218;28218747;28832583;28904123;29393594;29437277;29493099;29508533;29632046;29632711;30315122;31844290;31848261;31998317;32357974;32502341;33373220;33798544;33912179;35154160;35561310;37744277;38217303;38986826;39469880;8576230;8626410;9054939;9133562;9180264;9568704", "class_list": "", "function": "A Comprehensive Pan-Cancer Analysis of the Mitochondrial Uncoupling Protein UCP2, with a Focus on Sex and Gender-Related Aspects., [RefSeq, PubMed]; Antiporter that exports dicarboxylate intermediates of the Krebs cycle in exchange for phosphate plus a proton across the inner membrane of mitochondria, a process driven by mitochondrial motive force with an overall impact on glycolysis, glutaminolysis and glutathione-dependent redox balance. Continuous export of oxaloacetate and related four-carbon dicarboxylates from mitochondrial matrix into the cytosol negatively regulates the oxidation of acetyl-CoA substrates via the Krebs cycle, lowering the ATP/ADP ratio and reactive oxygen species (ROS) production (PubMed:24395786). May mediate inducible proton entry into the mitochondrial matrix affecting ATP turnover as a protection mechanism against oxidative stress. The proton currents are most likely associated with fatty acid flipping across the inner membrane of mitochondria in a metabolic process regulated by free fatty acids and purine nucleotides (By similarity) (PubMed:11171965, PubMed:11278935, PubMed:22524567, PubMed:26182433, PubMed:33373220). Regulates the use of glucose as a source of energy. Required for glucose-induced DRP1-dependent mitochondrial fission and neuron activation in the ventromedial nucleus of the hypothalamus (VMH). This mitochondrial adaptation mechanism modulates the VMH pool of glucose-excited neurons with an impact on systemic glucose homeostasis (By similarity). Regulates ROS levels and metabolic reprogramming of macrophages during the resolution phase of inflammation. Attenuates ROS production in response to IL33 to preserve the integrity of the Krebs cycle required for persistent production of itaconate and subsequent GATA3-dependent differentiation of inflammation-resolving alternatively activated macrophages (By similarity). Can unidirectionally transport anions including L-malate, L-aspartate, phosphate and chloride ions (PubMed:22524567, PubMed:24395786, PubMed:26182433). Does not mediate adaptive thermogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; CircUCP2 promotes the tumor progression of non-small cell lung cancer through the miR-149/UCP2 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Differential regulation of mitochondrial uncoupling protein 2 in cancer cells., [RefSeq, PubMed]; Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq, Jul 2008]., [RefSeq]; UCP2 promotes NSCLC proliferation and glycolysis via the mTOR/HIF-1alpha 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": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 15, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4PJH8;Q53HM3", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0015297 antiporter activity;GO:0019003 GDP binding;GO:0015078 proton transmembrane transporter activity;GO:0015108 chloride transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0000303 response to superoxide;GO:0009409 response to cold;GO:0032869 cellular response to insulin stimulus;GO:0043066 negative regulation of apoptotic process;GO:0071333 cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P55851-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L1W4-1", "uniprot_id": [ { "id": "LRC8D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L1W4", "type": "external" } ], "mass": 98201.0, "length": 858, "protein_name": "Volume-regulated anion channel subunit LRRC8D", "gene_name": "LRRC8D", "organism": "Human", "refseq_name": "volume-regulated anion channel subunit LRRC8D", "refseq_ac": [ { "id": "NP_001127951", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127951", "type": "external" } ], "gene_names_uniprotkb": "LRRC8D; LRRC5; PRO239", "gene_names_refseq": "HsLRRC8D; LRRC5; LRRC8D", "protein_names_uniprotkb": "Volume-regulated anion channel subunit LRRC8D; HsLRRC8D; Leucine-rich repeat-containing protein 5; Leucine-rich repeat-containing protein 8D", "protein_names_refseq": "leucine rich repeat containing 5; leucine rich repeat containing 8 family member D; leucine-rich repeat-containing protein 5; leucine-rich repeat-containing protein 8D; volume-regulated anion channel subunit LRRC8D", "tax_id": 9606, "disease": "", "pathway": " (hsa:55144); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10571941;11237011;11326272;11326338;11401429;12297987;12297989;12951058;12975309;13130483;14984739;15094057;15804357;17166836;18057121;18347014;1840603;18452278;18491316;18669648;18930737;19262752;1955075;19717468;20068231;22119785;22532330;22649030;23169667;23186163;23584533;24714562;24725410;24782309;24790029;25502872;25645385;25813380;25880248;26154972;26530471;26620797;26635246;26728094;26824658;26992070;27102039;27600516;27920218;28193731;28218747;28228285;28832583;28834231;28855257;28904123;29242379;29314611;29317506;29437277;29493099;29557506;29769354;29786170;29789417;30315122;30429286;30459171;30484775;30524438;30833945;31154438;31530632;31611695;31844290;32157095;32161166;32350084;32357974;32387766;32415200;32488085;32938616;32983136;33171122;33298915;33912179;33968037;34357683;34509645;34932366;35051231;35154160;35251023;35580925;35705054;36215666;36241641;36284347;37938771;4018271;40307207;7615546;7619062;7749638;9114041;9537412", "class_list": "", "function": "Cryo-EM structure of the volume-regulated anion channel LRRC8D isoform identifies features important for substrate permeation. Publication Status: Online-Only, [RefSeq, PubMed]; Identified four genes, named TA-LRRP, AD158, LRRC5, and FLJ23420, as unknown LRRC8-like genes, [RefSeq, PubMed]; Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731, PubMed:32415200). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24790029, PubMed:26824658, PubMed:28193731). Plays a redundant role in the efflux of amino acids, such as aspartate, in response to osmotic stress (PubMed:28193731). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24782309, PubMed:24790029, PubMed:26824658, PubMed:28193731). Also acts as a regulator of glucose-sensing in pancreatic beta cells: VRAC currents, generated in response to hypotonicity- or glucose-induced beta cell swelling, depolarize cells, thereby causing electrical excitation, leading to increase glucose sensitivity and insulin secretion (By similarity). VRAC channels containing LRRC8D inhibit transport of immunoreactive cyclic dinucleotide GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol (PubMed:33171122). Mediates the import of the antibiotic blasticidin-S into the cell (PubMed:24782309)., [UniProtKB, PubMed, PubMed, 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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "D3DT29;Q6UWB2;Q9NVW3", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0005225 volume-sensitive anion channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0098656 monoatomic anion transmembrane transport;GO:0001678 intracellular glucose homeostasis;GO:0015734 taurine transmembrane transport;GO:0071470 cellular response to osmotic stress;GO:0034214 protein hexamerization", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q7L1W4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07352-1", "uniprot_id": [ { "id": "TISB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07352", "type": "external" } ], "mass": 36314.0, "length": 338, "protein_name": "mRNA decay activator protein ZFP36L1", "gene_name": "ZFP36L1", "organism": "Human", "refseq_name": "mRNA decay activator protein ZFP36L1 isoform 1", "refseq_ac": [ { "id": "NP_001231627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231627", "type": "external" } ], "gene_names_uniprotkb": "ZFP36L1; BERG36; BRF1; ERF1; RNF162B; TIS11B", "gene_names_refseq": "BRF1; Berg36; ERF-1; ERF1; RNF162B; TIS11B; ZFP36L1; cMG1", "protein_names_uniprotkb": "mRNA decay activator protein ZFP36L1; Butyrate response factor 1; EGF-response factor 1; ERF-1; TPA-induced sequence 11b; ZFP36-like 1; Zinc finger protein 36, C3H1 type-like 1", "protein_names_refseq": "EGF-response factor 1; TPA-induced sequence 11b; ZFP36 ring finger protein like 1; ZFP36-like 1; butyrate response factor 1; early response factor Berg36; mRNA decay activator protein ZFP36L1 isoform 1; mRNA decay activator protein ZFP36L1; zinc finger protein 36, C3H type-like 1; zinc finger protein 36, C3H1 type-like 1; zinc finger protein, C3H type, 36-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:677); (R-HSA-450385)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10367403;10380706;10513815;11237011;11719186;12042320;12198173;14976220;15104674;15465005;15467755;15538381;15687258;15713487;15967811;17030608;17081983;17369404;18212344;18326031;18767875;19179481;19651622;20166139;20166898;20702587;21406692;21832157;23186163;23481700;23783831;24275569;24700863;24714562;24715725;25014217;25106868;25469497;25576301;26154972;26280535;26375851;26542173;26728094;26758079;26811146;26992070;27182009;27708140;27846572;27862975;27869121;27920218;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29786170;30315122;30429286;30524438;30779550;30784271;31154438;31217245;31844290;31848261;31998317;32157095;32265295;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33912179;33936100;33968037;34211107;34932366;35051231;35318648;35580925;36008402;36010968;36228153;36241641;36284347;36846448;37938771;38317146;8024689;8346037;8898945;9045906", "class_list": "", "function": "MicroRNA-377-3p exacerbates chronic obstructive pulmonary disease through suppressing ZFP36L1 expression and inducing lung fibroblast senescence. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of neuroendocrine plasticity by the RNA-binding protein ZFP36L1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the TIS11 family of early response genes, which are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. This gene is well conserved across species and has a promoter that contains motifs seen in other early-response genes. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]; ZFP36 ring finger protein like 1 significantly suppresses human coronavirus OC43 replication. Publication Status: Online-Only, [RefSeq, PubMed]; Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis. Acts as a 3'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery. Functions by recruiting the CCR4-NOT deadenylase complex and probably other components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promotes ARE-mediated mRNA deadenylation and decay processes. Binds to 3'-UTR ARE of numerous mRNAs., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 14, "reported_mutagensis": 8, "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": "Q13851", "ec_number_list": [], "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0045577 regulation of B cell differentiation;GO:0031086 nuclear-transcribed mRNA catabolic process, deadenylation-independent decay;GO:0097403 cellular response to raffinose;GO:1902172 regulation of keratinocyte apoptotic process;GO:1904582 positive regulation of intracellular mRNA localization", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q07352-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A087WXM9-1", "uniprot_id": [ { "id": "MEIKN_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A087WXM9", "type": "external" } ], "mass": 40829.0, "length": 373, "protein_name": "Meiosis-specific kinetochore protein", "gene_name": "MEIKIN", "organism": "Human", "refseq_name": "meiosis-specific kinetochore protein", "refseq_ac": [ { "id": "NP_001290551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290551", "type": "external" } ], "gene_names_uniprotkb": "MEIKIN", "gene_names_refseq": "MEIKIN; SPO13", "protein_names_uniprotkb": "Meiosis-specific kinetochore protein", "protein_names_refseq": "meiosis-specific kinetochore protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:728637)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;18718982;25533956;30379171;32938616", "class_list": "", "function": "Key regulator of kinetochore function during meiosis I: required both for mono-orientation of kinetochores on sister chromosomes and protection of centromeric cohesin from separase-mediated cleavage. Acts by facilitating kinetochore mono-orientation during meiosis I, when kinetochores on sister chromosomes face the same direction and are thus captured and pulled by spindle fibers from the same pole. Also required to prevent cleavage of cohesin at centromeres during meiosis I, possibly by acting as a regulator of the shugoshin-dependent protection pathway. Acts in collaboration with PLK1: required for PLK1 enrichment to kinetochores. Not required during meiosis II or mitosis., [UniProtKB, UniProtKB]; Single marker analysis indicated that SNP5 (rs1355095) in LOC728637 is associated with schizophrenia in Han Chinese., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": 5, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A8IBZ9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000776 kinetochore;GO:0000779 condensed chromosome, centromeric region", "go_biological_process": "GO:0045143 homologous chromosome segregation;GO:0007060 male meiosis chromosome segregation;GO:0010789 meiotic sister chromatid cohesion involved in meiosis I;GO:0016321 female meiosis chromosome segregation;GO:0051754 meiotic sister chromatid cohesion, centromeric", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A0A087WXM9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78415-1", "uniprot_id": [ { "id": "IRX3_HUMAN", "url": "https://www.uniprot.org/uniprot/P78415", "type": "external" } ], "mass": 52119.0, "length": 501, "protein_name": "Iroquois-class homeodomain protein IRX-3", "gene_name": "IRX3", "organism": "Human", "refseq_name": "iroquois-class homeodomain protein IRX-3", "refseq_ac": [ { "id": "NP_077312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077312", "type": "external" } ], "gene_names_uniprotkb": "IRX3; IRXB1", "gene_names_refseq": "IRX-1; IRX3; IRXB1", "protein_names_uniprotkb": "Iroquois-class homeodomain protein IRX-3; Homeodomain protein IRXB1; Iroquois homeobox protein 3", "protein_names_refseq": "homeodomain protein IRXB1; iroquois homeobox protein 3; iroquois-class homeodomain protein IRX-1; iroquois-class homeodomain protein IRX-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:79191)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;19240061;20080751;25576301;26992070;28832583;29242379;29557506;29786170;30779550;31154438;31217245;32157095;32161166;32387766;32938616;33141586;33392160;33776928;34083488;34087483;34171305;35051231;35318648;35328612;35957832;36415696", "class_list": "", "function": "Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5., [RefSeq, PubMed]; IRX3 Overexpression Enhances Ucp1 Expression In Vivo. Publication Status: Online-Only, [RefSeq, PubMed]; IRX3 function may have a direct functional relationship to both obesity and type 2 diabetes. Erratum:[Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4264], [RefSeq, PubMed]; IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009]., [RefSeq]; IRX3 plays an important role in the pathogenesis of metabolic-associated fatty liver disease by regulating hepatic lipid metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction analysis of FTO and IRX3 genes with obesity and related metabolic disorders in an admixed Latin American population: a possible risk increases of body weight excess. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Hematopoietic TALE-Code Shows Normal Activity of IRX1 in Myeloid Progenitors and Reveals Ectopic Expression of IRX3 and IRX5 in Acute Myeloid Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor involved in SHH-dependent neural patterning. Together with NKX2-2 and NKX6-1 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class I proteins of neuronal progenitor factors, which are repressed by SHH signals. Involved in the transcriptional repression of MNX1 in non-motor neuron cells. Acts as a regulator of energy metabolism., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z4A4;Q7Z4A5;Q8IVC6", "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0030424 axon;GO:0000785 chromatin", "go_biological_process": "GO:0072086 specification of loop of Henle identity;GO:0003167 atrioventricular bundle cell differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P78415-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15077-1", "uniprot_id": [ { "id": "P2RY6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15077", "type": "external" } ], "mass": 36429.0, "length": 328, "protein_name": "P2Y purinoceptor 6", "gene_name": "P2RY6", "organism": "Human", "refseq_name": "P2Y purinoceptor 6", "refseq_ac": [ { "id": "NP_001264133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264133", "type": "external" } ], "gene_names_uniprotkb": "P2RY6; PP2891", "gene_names_refseq": "P2RY6; P2Y6", "protein_names_uniprotkb": "P2Y purinoceptor 6; P2Y6", "protein_names_refseq": "G-coupled nucleotide receptor; P2 purinoceptor; P2Y purinoceptor 6; P2Y6 receptor; pyrimidinergic receptor P2Y, G-protein coupled, 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:5031); (R-HSA-416476); (R-HSA-417957)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "10191087;10567430;10727532;10753868;10861009;11004484;11015615;11156592;11196645;11237011;11546776;11742120;11753430;12120503;12386137;12458155;15199474;15498874;15951850;16182515;16268477;16268778;16339447;16754659;16774927;16923326;16990797;17166850;18297070;18434541;18466763;18515384;18577758;18936096;1905813;19339661;19552634;23890048;24393016;24414167;26194851;26758983;27694321;28089137;2841328;3086311;31844290;32387766;3304967;35051231;38225667;38246724;38996067;7937899;8159738;8537336;8664309;8666290;8670200;8700127;8720746;9223435;9268704;9286708;9305846;9364473;9405388;9770463", "class_list": "", "function": "Lipopolysaccharide-mediated ATP signaling regulates interleukin-6 mRNA expression via the P2-purinoceptor in human dental pulp cells., [RefSeq, PubMed]; Receptor for extracellular UDP > UTP > ATP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system., [UniProtKB]; The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, which is a G-protein coupled receptor, is responsive to UDP, partially responsive to UTP and ADP, and not responsive to ATP. It is proposed that this receptor mediates inflammatory responses. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Mar 2013]., [RefSeq]; The role of P2Y6 receptor in the pathogenesis of cardiovascular and inflammatory diseases. Review article, [RefSeq, PubMed]; Tumor-intrinsic P2RY6 drives immunosuppression by enhancing PGE2 production., [RefSeq, PubMed]; Using rat P2Y6 recombinant protein expressed in human astrocytoma cells, the authors found that the P2Y6 receptor is highly selective for UDP over UTP., [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": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q15754", "ec_number_list": [], "go_molecular_function": "GO:0001621 G protein-coupled ADP receptor activity;GO:0045029 G protein-coupled UDP receptor activity;GO:0045030 G protein-coupled UTP receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0045028 G protein-coupled purinergic nucleotide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0032962 positive regulation of inositol trisphosphate biosynthetic process;GO:0007186 G protein-coupled receptor signaling pathway;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0006909 phagocytosis;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q15077-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H900-1", "uniprot_id": [ { "id": "ZWILC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H900", "type": "external" } ], "mass": 67214.0, "length": 591, "protein_name": "Protein zwilch homolog", "gene_name": "ZWILCH", "organism": "Human", "refseq_name": "protein zwilch homolog isoform 2", "refseq_ac": [ { "id": "NP_001274750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274750", "type": "external" } ], "gene_names_uniprotkb": "ZWILCH", "gene_names_refseq": "KNTC1AP; ZWILCH; hZwilch", "protein_names_uniprotkb": "Protein zwilch homolog; hZwilch", "protein_names_refseq": "Zwilch, kinetochore associated, homolog; homolog of Drosophila Zwilch; protein zwilch homolog isoform 2; protein zwilch homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:55055); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 8, "publication_count": 127, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12686595;12732141;12805219;12852857;14730319;15006353;15085137;15126332;15339662;15507212;15723797;15737063;15824131;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;1737036;18001770;18097444;18669648;18691976;18716626;18923426;19008095;19350017;19696148;19815554;19965387;20030946;20068231;20101212;20462495;20591975;20800603;21111234;21148482;21397845;21576392;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23222643;23801653;24366607;24914801;25740311;25789526;26154972;26992070;27846572;28510447;28904123;29437277;29493099;29557506;30410026;30429286;31217245;31409757;31530632;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33392160;33592498;33691108;33912179;33936100;33968037;34171305;34185709;34260926;34509645;34932366;35051231;35561310;35580925;36010968;36241641;36284347;36580660;36581221;37938771;9649308;9649503;9892021", "class_list": "", "function": "Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:15824131)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Other name: HZwilch. Homologue of Drosophila Zwilch (CG18729). Localizes to the kinetochore during prometaphase and metaphase of HeLa cells. Complexed with human ROD and human ZW10, similar to situation in Drosophila., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KVB8;Q6N049;Q8N404;Q96SY7;Q9NWG7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005828 kinetochore microtubule;GO:1990423 RZZ complex;GO:0005829 cytosol;GO:0000776 kinetochore", "go_biological_process": "GO:0051301 cell division;GO:0007094 mitotic spindle assembly checkpoint signaling;GO:0051988 regulation of attachment of spindle microtubules to kinetochore;GO:0034501 protein localization to kinetochore", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q9H900-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q09327-1", "uniprot_id": [ { "id": "MGAT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q09327", "type": "external" } ], "mass": 61313.0, "length": 533, "protein_name": "Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase", "gene_name": "MGAT3", "organism": "Human", "refseq_name": "beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase", "refseq_ac": [ { "id": "NP_001091740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091740", "type": "external" } ], "gene_names_uniprotkb": "MGAT3; GGNT3", "gene_names_refseq": "GNT-III; GNT3; MGAT3", "protein_names_uniprotkb": "Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase; 2.4.1.144; GNT-III; GlcNAc-T III; N-acetylglucosaminyltransferase III; N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase III", "protein_names_refseq": "GlcNAc-T III; N-acetylglucosaminyltransferase III; N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase III; beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase; mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:4248); (R-HSA-975574)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;12417419;18477386;19403558;20395209;22299025;23481700;24190977;24397554;24715725;25502872;25505266;25813380;25892735;26801611;27872474;27920218;28467828;28832583;28904123;29133956;29242379;29314611;29317506;29393594;29437277;29557506;29632046;29642803;29769354;29991969;30315122;30459171;30573663;31611695;31844290;32350084;32357974;33200553;33912179;33936100;34433824;34932366;35051231;35154160;35166206;37632720;8370666", "class_list": "glycogene;glycosyltransferase", "function": "Associations between genetic variants of KIF5B, FMN1, and MGAT3 in the cadherin pathway and pancreatic cancer risk., [RefSeq, PubMed]; It is involved in the regulation of the biosynthesis and biological function of glycoprotein oligosaccharides. Catalyzes the addition of N-acetylglucosamine in beta 1-4 linkage to the beta-linked mannose of the trimannosyl core of N-linked sugar chains, called bisecting N-acetylglucosamine (GlcNAc). It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. The addition of this bisecting GlcNAc residue alters not only the composition, but also the conformation of the N-glycan. The introduction of the bisecting GlcNAc residue results in the suppression of further processing and elongation of N-glycans, precluding the formation of beta-1,6 GlcNAc branching, catalyzed by MGAT5 since it is unable to use the bisected oligosaccharide as a substrate (PubMed:19403558). Addition of bisecting N-acetylglucosamine to CDH1/E-cadherin modulates CDH1 cell membrane location (PubMed:19403558). Inhibits NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-formation which modulates sialylation levels and plays a role in cell migration regulation (PubMed:26801611). In brain, addition of bisecting N-acetylglucosamine to BACE1 blocks its lysosomal targeting in response to oxidative stress and further degradation which increases its location to early endosome and the APP cleavage (By similarity). Adds bisecting GlcNAc residue to complex-type N-linked-glycans attached on fragment crystallizable (Fc) of IgGs. Readily converts fucosylated and non-fucosylated core glycoforms with terminal GlcNAcs on both antennae. Prior galactosylation of GlcNAc on the alpha(1->3) Man branch prevents N-glycan bisection, whereas galactosylation of GlcNAc on the alpha(1->6) Man branch is permissive., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Results strongly indicate that the MGAT3 and BACH2 genes play an important role in IBD pathogenesis and suggest a possible disease pathway mediated by the pro-inflammatory properties of IgG antibodies acquired by alterations in Fc glycosylation. Publication Status: Online-Only, [RefSeq, PubMed]; Study found that N-Acetylglucosaminyltransferase III (GnT-III) is expressed in trophoblasts during normal human pregnancy and is involved in regulating trophoblast function., [RefSeq, PubMed]; Suppression of MGAT3 expression and the epithelial-mesenchymal transition of lung cancer cells by miR-188-5p., [RefSeq, PubMed]; There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 625, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A6NGD0;Q14CK5;Q6IC49;Q9UH32", "ec_number_list": [ { "id": "2.4.1.144", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.144", "type": "external" } ], "go_molecular_function": "GO:0003830 beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity;GO:0016757 glycosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0006044 N-acetylglucosamine metabolic process;GO:1902966 positive regulation of protein localization to early endosome;GO:0050435 amyloid-beta metabolic process;GO:0050890 cognition;GO:0034599 cellular response to oxidative stress", "synthesized_glycan_count": 2382, "hit_score": 6.0, "record_id": "Q09327-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S99-1", "uniprot_id": [ { "id": "PKHF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S99", "type": "external" } ], "mass": 31195.0, "length": 279, "protein_name": "Pleckstrin homology domain-containing family F member 1", "gene_name": "PLEKHF1", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family F member 1", "refseq_ac": [ { "id": "NP_077286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077286", "type": "external" } ], "gene_names_uniprotkb": "PLEKHF1; APPD; LAPF; ZFYVE15", "gene_names_refseq": "APPD; LAPF; PHAFIN1; PLEKHF1; ZFYVE15", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family F member 1; Apoptosis-inducing protein; Lysosome-associated apoptosis-inducing protein containing PH and FYVE domains; PH and FYVE domain-containing protein 1; PH domain-containing family F member 1; Phafin-1; Zinc finger FYVE domain-containing protein 15", "protein_names_refseq": "PH and FYVE domain-containing protein 1; PH domain-containing family F member 1; apoptosis-inducing protein D; lysosome-associated apoptosis-inducing protein containing PH and FYVE domains; phafin 1; pleckstrin homology domain containing, family F (with FYVE domain) member 1; pleckstrin homology domain-containing family F member 1; zinc finger FYVE domain-containing protein 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:79156)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;16188880;22115783;24714562;26154972;26728094;26992070;27862975;28063628;28218747;28832583;29242379;29437277;29632046;30315122;30410026;30429286;31844290;32157095;32357974;32488085;32938616;33537174;33968037;34932366;35051231;35580925", "class_list": "", "function": "May play a role in endosome function., [UniProtKB, UniProtKB]; The results suggest that in addition to its role in endosome transport, phafin1 is also involved in lysosomal targeting and autophagosome formation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q96K11;Q9BUB9", "ec_number_list": [], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0008270 zinc ion binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005769 early endosome;GO:0048471 perinuclear region of cytoplasm;GO:0005764 lysosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0006915 apoptotic process;GO:0007032 endosome organization;GO:0008333 endosome to lysosome transport;GO:0010508 positive regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q96S99-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62191-1", "uniprot_id": [ { "id": "PRS4_HUMAN", "url": "https://www.uniprot.org/uniprot/P62191", "type": "external" } ], "mass": 49185.0, "length": 440, "protein_name": "26S proteasome regulatory subunit 4", "gene_name": "PSMC1", "organism": "Human", "refseq_name": "26S proteasome regulatory subunit 4 isoform b", "refseq_ac": [ { "id": "NP_001317141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317141", "type": "external" } ], "gene_names_uniprotkb": "PSMC1", "gene_names_refseq": "NEDGTH; P26S4; PSMC1; RPT2; S4; p56", "protein_names_uniprotkb": "26S proteasome regulatory subunit 4; 26S proteasome AAA-ATPase subunit RPT2; P26s4; Proteasome 26S subunit ATPase 1", "protein_names_refseq": "26S protease regulatory subunit 4; 26S proteasome AAA-ATPase subunit RPT2; 26S proteasome regulatory subunit 4 isoform b; 26S proteasome regulatory subunit 4; proteasome (prosome, macropain) 26S subunit, ATPase, 1; proteasome 26S ATPase subunit 1", "tax_id": 9606, "disease": "neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss (Disease Ontology:DOID:0081324); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:5700); (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-532668); (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": 69, "publication_count": 1080, "publication_id_list": 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"class_list": "", "function": "Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC1 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]; PSMC1 variant causes a novel neurological syndrome., [RefSeq, PubMed]; The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "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": "B4DR63;P49014;Q03527;Q6IAW0;Q6NW36;Q96AZ3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0036402 proteasome-activating activity", "go_cellular_component": "GO:0008540 proteasome regulatory particle, base subcomplex;GO:0022624 proteasome accessory complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006979 response to oxidative stress;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010498 proteasomal protein catabolic process;GO:0061136 regulation of proteasomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 108.3, "record_id": "P62191-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UN2-1", "uniprot_id": [ { "id": "R4RL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UN2", "type": "external" } ], "mass": 49065.0, "length": 441, "protein_name": "Reticulon-4 receptor-like 1", "gene_name": "RTN4RL1", "organism": "Human", "refseq_name": "reticulon-4 receptor-like 1 precursor", "refseq_ac": [ { "id": "NP_848663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848663", "type": "external" } ], "gene_names_uniprotkb": "RTN4RL1; NGRH2; NGRL2", "gene_names_refseq": "NGRH2; NgR3; RTN4RL1", "protein_names_uniprotkb": "Reticulon-4 receptor-like 1; NgR3; Nogo receptor-like 2; Nogo-66 receptor homolog 2; Nogo-66 receptor-related protein 3", "protein_names_refseq": "Nogo-66 receptor homolog 2; Nogo-66 receptor-related protein 3; nogo receptor-like 2; reticulon-4 receptor-like 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:146760); (R-HSA-163125)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "10.1101/2023.09.13.557529;11072085;12694398;12839991;14664809;22133682;22325200;23090970;24190977;2443973;26383923;29327067;32350084;3422494;35251023", "class_list": "", "function": "Cell surface receptor. Plays a functionally redundant role in postnatal brain development and in regulating axon regeneration in the adult central nervous system. Contributes to normal axon migration across the brain midline and normal formation of the corpus callosum. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated by MAG. Plays a role in inhibiting neurite outgrowth and axon regeneration via its binding to neuronal chondroitin sulfate proteoglycans. Binds heparin (By similarity). Like other family members, plays a role in restricting the number dendritic spines and the number of synapses that are formed during brain development (PubMed:22325200). Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton (PubMed:22325200)., [UniProtKB, UniProtKB, PubMed]; Duplication of 10q22.3-q23.3 encompassing NGR3 gene is associated with congenital heart disease, microcephaly, and mild intellectual disability, [RefSeq, PubMed]; Nogo receptor 3, a paralog of NgR1,functions as a NgR1 co-receptor for Nogo-66., [RefSeq, PubMed]; Predominantly expressed in the neurons of the embryonic and adult nervous systems, [RefSeq, PubMed]; RTN4RL1 plays an important role in promoting the EMT of nasopharyngeal carcinoma (NPC) by regulating the phosphorylation of Src and FAK, thus activating their downstream pathways and eventually altering E-cadherin levels, F-actin polymerization, and cell polarity. Additionally, a high level of RTN4RL1 correlates with a poor prognosis of NPC., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1A5E3;Q8ND46", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0035374 chondroitin sulfate binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043204 perikaryon;GO:0045121 membrane raft", "go_biological_process": "GO:0010977 negative regulation of neuron projection development;GO:0051965 positive regulation of synapse assembly;GO:0022038 corpus callosum development;GO:0031103 axon regeneration;GO:0048681 negative regulation of axon regeneration", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q86UN2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9Y2-1", "uniprot_id": [ { "id": "RPF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9Y2", "type": "external" } ], "mass": 40111.0, "length": 349, "protein_name": "Ribosome production factor 1", "gene_name": "RPF1", "organism": "Human", "refseq_name": "ribosome production factor 1", "refseq_ac": [ { "id": "NP_079341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079341", "type": "external" } ], "gene_names_uniprotkb": "RPF1; BXDC5", "gene_names_refseq": "BXDC5; RPF1", "protein_names_uniprotkb": "Ribosome production factor 1; Brix domain-containing protein 5; Ribosome biogenesis protein RPF1", "protein_names_refseq": "2310066N05Rik; RNA processing factor 1 (RPF1); brix domain containing 5; brix domain-containing protein 5; ribosome biogenesis protein RPF1; ribosome production factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80135)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "11237011;11864606;12429849;24715725;25418920;25576301;26154972;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30429286;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32357974;32387766;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;35051231;35561310;35580925;36010968;36215666;36241641;38391939;40596516", "class_list": "", "function": "Human RPF1 and ESF1 in Pre-rRNA Processing and the Assembly of Pre-Ribosomal Particles: A Functional Study. Publication Status: Online-Only, [RefSeq, PubMed]; May be required for ribosome biogenesis., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "Q5VSK7;Q6AHX1;Q8WXZ8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042134 rRNA primary transcript binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0030687 preribosome, large subunit precursor", "go_biological_process": "GO:0000460 maturation of 5.8S rRNA;GO:0000470 maturation of LSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9H9Y2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2RU48-1", "uniprot_id": [ { "id": "SMCO3_HUMAN", "url": "https://www.uniprot.org/uniprot/A2RU48", "type": "external" } ], "mass": 24877.0, "length": 225, "protein_name": "Single-pass membrane and coiled-coil domain-containing protein 3", "gene_name": "SMCO3", "organism": "Human", "refseq_name": "single-pass membrane and coiled-coil domain-containing protein 3", "refseq_ac": [ { "id": "NP_001013720", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013720", "type": "external" } ], "gene_names_uniprotkb": "SMCO3; C12orf69", "gene_names_refseq": "C12orf69; SMCO3", "protein_names_uniprotkb": "Single-pass membrane and coiled-coil domain-containing protein 3", "protein_names_refseq": "single-pass membrane and coiled-coil domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:440087)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "29557506;31844290;35051231;37340703", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "Q8NAI5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A2RU48-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48431-1", "uniprot_id": [ { "id": "SOX2_HUMAN", "url": "https://www.uniprot.org/uniprot/P48431", "type": "external" } ], "mass": 34310.0, "length": 317, "protein_name": "Transcription factor SOX-2", "gene_name": "SOX2", "organism": "Human", "refseq_name": "transcription factor SOX-2", "refseq_ac": [ { "id": "NP_003097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003097", "type": "external" } ], "gene_names_uniprotkb": "SOX2", "gene_names_refseq": "ANOP3; MCOPS3; SOX2", "protein_names_uniprotkb": "Transcription factor SOX-2", "protein_names_refseq": "SRY (sex determining region Y)-box 2; SRY-box 2; SRY-related HMG-box gene 2; sex determining region Y-box 2; transcription factor SOX-2; transcription factor SOX2", "tax_id": 9606, "disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); traumatic brain injury (Disease Ontology:DOID:0081292); syndromic microphthalmia 3 (Disease Ontology:DOID:0111801); nasal cavity cancer (Disease Ontology:DOID:10811); lesion of sciatic nerve (Disease Ontology:DOID:12528); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); squamous cell carcinoma (Disease Ontology:DOID:1749); melanoma (Disease Ontology:DOID:1909); transient cerebral ischemia (Disease Ontology:DOID:224); multiple sclerosis (Disease Ontology:DOID:2377); transitional cell carcinoma (Disease Ontology:DOID:2671); cholangiocarcinoma (Disease Ontology:DOID:4947); congestive heart failure (Disease Ontology:DOID:6000); retinal degeneration (Disease Ontology:DOID:8466); oral cavity cancer (Disease Ontology:DOID:8618)", "pathway": " (hsa:6657); (R-HSA-2892245); (R-HSA-2892247); (R-HSA-3769402); (R-HSA-452723); (R-HSA-6785807); (R-HSA-8986944); (R-HSA-9754189); (R-HSA-9823739); (R-HSA-9832991); (R-HSA-9834899); (R-HSA-9856649); (R-HSA-9926550)", "pathway_count": 13, "publication_count": 333, "publication_id_list": "10.1101/2023.09.13.557529;10023775;10209961;10219247;10369418;10510379;10549281;10567402;10586089;10611221;10655586;10673502;10716450;10804184;10867011;10898789;10921920;10944533;11027551;11058569;11077116;11084045;11104795;11120780;11278437;11278729;11356008;11404481;11463377;11518510;11691915;11751684;11840323;11855863;11891324;11912130;11930005;11960372;12065233;12223527;12242343;12408824;12408825;12600988;12612584;12712206;12787505;12832402;14600025;14634100;14681828;14685266;14688391;14712222;14975237;15001579;15108323;15110706;15116091;15118077;15132997;15226305;15261459;15277698;15327769;15342930;15342941;15493035;15507434;15513931;15525529;15582778;15584925;15625129;15695770;15743839;15805299;15860457;15869882;15881652;15950906;15955829;15983365;15988017;16007214;16014379;16034366;16048438;16107692;16153702;16205632;16236134;16397018;16397896;16451196;16510571;16510874;16540365;16606674;16670092;16822840;16846370;16862074;16954206;16978057;1698554;17068183;1715580;17204602;17218525;17267691;17412698;17427945;17458857;1748288;17506876;17567999;17572495;17572666;17580084;17623675;17628018;17698607;17875931;18029452;18035408;18042803;18212089;18243101;18353781;18366076;18378692;18388306;18447642;18456656;18550259;18573912;18598779;18644867;18644974;18653770;18687985;18729794;18819930;18824471;19047045;19057969;19124156;19128516;19151334;19185846;19329776;19349578;19364920;19397496;19440552;19489980;19522013;19524539;19544431;19590037;19590513;19604364;19608861;19664995;19688839;19696931;19755485;19829295;19928349;19940019;19940119;19966271;20027182;20074535;20418909;20460180;20493732;20505756;20505821;20526341;20549704;20616345;20624125;20837710;20872845;20925113;20945330;20953172;21049019;21102457;21245162;21252155;21406692;21486943;21630377;21654807;21689689;21730069;21791611;21816365;21924763;21937440;21965087;21994466;22015605;22046235;22178155;22205702;22210884;22215994;22304967;22327294;22383755;22402664;22647378;22661428;22693070;22851691;22855527;22887036;22988117;23086340;23124025;23159739;23172665;23178592;23190890;23207919;23455323;23555662;23827706;23827708;23967200;24033328;24097101;24218367;24291232;24743777;25116380;25234944;25248477;25595898;25693565;25921273;25936800;26498353;26843422;27052315;27128622;27249336;28394346;28683304;29234012;29295999;29331515;29358331;29401647;29556337;29557506;30442713;30620550;30716301;30804224;31281487;31823521;31831667;31844290;32194860;32448362;32543734;32574038;32582212;32636443;33592498;33744299;34140478;34217213;34732716;34819616;35051231;35132862;35254053;35944584;37541260;37770430;37986328;38473392;38838015;39109770;39122009;39175947;39368083;5338216;7510216;7512451;7529288;7545930;7555726;7688835;7795521;7796300;7849401;7898939;7907877;7958932;8085155;8336698;8602263;8621622;8663118;8668165;8797861;8816495;8895516;9000051;9013879;9168821;9199364;9353119;9354794;9417125;9440696;9560246;9651359;9676189;9723655;9736340;9760192;9807024;9822675;9874564;9973413", "class_list": "", "function": "Do SOD2 and SOD3 gene polymorphisms impact the oral health-related quality of life in Para athletes? Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear and cytosolic fractions of SOX2 synergize as transcriptional and translational co-regulators of cell fate., [RefSeq, PubMed]; SOX2 represses c-MYC transcription by altering the co-activator landscape of the c-MYC super-enhancer and promoter regions., [RefSeq, PubMed]; Secreted factors from M1 macrophages drive prostate cancer stem cell plasticity by upregulating NANOG, SOX2, and CD44 through NFkappaB-signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Binds to the proximal enhancer region of NANOG (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency (PubMed:18035408). Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity). May function as a switch in neuronal development (By similarity)., [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": 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": 8, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 17, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q14537", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0021781 glial cell fate commitment;GO:0001714 endodermal cell fate specification;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0030900 forebrain development", "synthesized_glycan_count": 0, "hit_score": 34.4, "record_id": "P48431-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQB4-1", "uniprot_id": [ { "id": "SOST_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQB4", "type": "external" } ], "mass": 24031.0, "length": 213, "protein_name": "Sclerostin", "gene_name": "SOST", "organism": "Human", "refseq_name": "sclerostin precursor", "refseq_ac": [ { "id": "NP_079513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079513", "type": "external" } ], "gene_names_uniprotkb": "SOST; PRO7476", "gene_names_refseq": "CDD; DAND6; SOST1; SOST; VBCH", "protein_names_uniprotkb": "Sclerostin", "protein_names_refseq": "sclerostin precursor", "tax_id": 9606, "disease": "sclerosteosis (Disease Ontology:DOID:0060251); sclerosteosis 1 (Disease Ontology:DOID:0060756); SOST-related sclerosing bone dysplasia (Disease Ontology:DOID:0080036); autosomal dominant craniodiaphyseal dysplasia (Disease Ontology:DOID:0080807)", "pathway": " (hsa:50964); (R-HSA-201681); (R-HSA-3772470)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10198061;10201374;10347172;11029007;11137016;11179006;11181578;11357136;11433302;11448771;11493532;11742004;11836356;12050670;12167704;12205098;12223464;12527209;12775774;12897152;12975309;14636582;14981260;15084453;15208637;15256437;15340161;15454084;15459103;15778503;15908424;16116452;16172602;16280981;16427602;16554443;16723543;16971168;17143291;17234765;17462603;18077588;18322270;18423204;18502762;18606139;19000841;19174556;19208630;19307728;19619488;19755491;20004982;20053636;20093360;20551380;20583295;21221996;21383061;21471202;21743455;21875946;21944579;21984209;22000855;22000856;22014570;22411803;22653731;22773843;22951645;22986341;23256519;23791946;38555554;38609129;38711986;38828726;9135132;9391096;9501980", "class_list": "", "function": "A 52 kb deletion has been identified downstream of the SOST gene in patients with van Buchem disease., [RefSeq, PubMed]; ASSESSMENT OF OSTEOPONTIN, SCLEROSTIN, AND OSTEOCALCIN LEVELS IN PATIENTS WITH HYPOTHYROIDISM ON MEDICAL THERAPY., [RefSeq, PubMed]; Evaluating the correlation of sclerostin levels with obesity and type 2 diabetes in a multiethnic population living in Kuwait. Publication Status: Online-Only, [RefSeq, PubMed]; Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes. Publication Status: Online-Only, [RefSeq, PubMed]; Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation., [UniProtKB, PubMed]; Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]., [RefSeq]; The Impact of Non-alcohol Fatty Liver Disease on Bone Mineral Density is Mediated by Sclerostin by Mendelian Randomization Study., [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": 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": "Q495N9", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0030246 carbohydrate binding;GO:0036122 BMP binding;GO:0140297 DNA-binding transcription factor binding;GO:0140678 molecular function inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0032991 protein-containing complex", "go_biological_process": "GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0009612 response to mechanical stimulus;GO:0045893 positive regulation of DNA-templated transcription;GO:0030514 negative regulation of BMP signaling pathway;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9BQB4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01614-1", "uniprot_id": [ { "id": "KVD40_HUMAN", "url": "https://www.uniprot.org/uniprot/P01614", "type": "external" } ], "mass": 13310.0, "length": 121, "protein_name": "Immunoglobulin kappa variable 2D-40", "gene_name": "IGKV2D-40", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKV2D-40", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa variable 2D-40; Ig kappa chain V-II region Cum", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 538, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 192, "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": "A0A075B6R1", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0072562 blood microparticle;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 53.9, "record_id": "P01614-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08ER8-1", "uniprot_id": [ { "id": "ZN543_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08ER8", "type": "external" } ], "mass": 68404.0, "length": 600, "protein_name": "Zinc finger protein 543", "gene_name": "ZNF543", "organism": "Human", "refseq_name": "zinc finger protein 543", "refseq_ac": [ { "id": "NP_998763", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_998763", "type": "external" } ], "gene_names_uniprotkb": "ZNF543", "gene_names_refseq": "ZNF543", "protein_names_uniprotkb": "Zinc finger protein 543", "protein_names_refseq": "zinc finger protein 543", "tax_id": 9606, "disease": "", "pathway": " (hsa:125919); (R-HSA-212436)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25880248;26095808;26992070;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29557506;30315122;30429286;31154438;31844290;32157095;32357974;32387766;32488085;32897882;33392160;33912179;34932366;35051231;35318648;35467255;35580925;36010968;37938771;8183939;8769649;9637681;9653119", "class_list": "", "function": "CRISPR/Cas9-Mediated Disruption of ZNF543 Gene: An Approach Toward Discovering Its Relation to TRIM28 Gene in Parkinson's Disease., [RefSeq, PubMed]; Data indicate 3 variants in 3 novel genes myc target 1 protein (MYCT1), caspase recruitment domain family member 8 (CARD8) and zinc finger protein 543 (ZNF543), associated with familial IgA nephropathy (IgAN)., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q495U9;Q495V0;Q6ZMP4;Q8NCX4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q08ER8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19793-1", "uniprot_id": [ { "id": "RXRA_HUMAN", "url": "https://www.uniprot.org/uniprot/P19793", "type": "external" } ], "mass": 50811.0, "length": 462, "protein_name": "Retinoic acid receptor RXR-alpha", "gene_name": "RXRA", "organism": "Human", "refseq_name": "retinoic acid receptor RXR-alpha isoform c", "refseq_ac": [ { "id": "NP_001278850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278850", "type": "external" } ], "gene_names_uniprotkb": "RXRA; NR2B1", "gene_names_refseq": "NR2B1; RXR-alpha; RXRA; RXRalpha", "protein_names_uniprotkb": "Retinoic acid receptor RXR-alpha; Nuclear receptor subfamily 2 group B member 1; Retinoid X receptor alpha", "protein_names_refseq": "nuclear receptor subfamily 2 group B member 1; retinoic acid receptor RXR-alpha isoform c; retinoic acid receptor RXR-alpha; retinoid X nuclear receptor alpha", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); alcoholic cardiomyopathy (Disease Ontology:DOID:12935); congenital heart disease (Disease Ontology:DOID:1682); pancreatic cancer (Disease Ontology:DOID:1793); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); prostate carcinoma in situ (Disease Ontology:DOID:8634); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:6256); (R-HSA-1368108); (R-HSA-159418); (R-HSA-192105); (R-HSA-193368); (R-HSA-193807); (R-HSA-1989781); (R-HSA-200425); (R-HSA-211976); (R-HSA-2151201); (R-HSA-2426168); (R-HSA-381340); (R-HSA-383280); (R-HSA-400206); (R-HSA-4090294); (R-HSA-5362517); (R-HSA-5617472); (R-HSA-9029558); (R-HSA-9029569); (R-HSA-9031525); (R-HSA-9031528); (R-HSA-9616222); (R-HSA-9623433); (R-HSA-9632974); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9839394); (R-HSA-9841922); (R-HSA-9844594); (R-HSA-9931509); (R-HSA-9933387)", "pathway_count": 31, "publication_count": 570, "publication_id_list": 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"class_list": "", "function": "Linc-ROR inhibits NK cell-killing activity by promoting RXRA ubiquitination and reducing MICB expression in gastric cancer patients., [RefSeq, PubMed]; Receptor for retinoic acid that acts as a transcription factor (PubMed:10874028, PubMed:11162439, PubMed:11915042, PubMed:37478846). Forms homo- or heterodimers with retinoic acid receptors (RARs) and binds to target response elements in response to their ligands, all-trans or 9-cis retinoic acid, to regulate gene expression in various biological processes (PubMed:10195690, PubMed:11162439, PubMed:11915042, PubMed:16107141, PubMed:17761950, PubMed:18800767, PubMed:19167885, PubMed:28167758, PubMed:37478846). The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5 to regulate transcription (PubMed:10195690, PubMed:11162439, PubMed:11915042, PubMed:17761950, PubMed:28167758). The high affinity ligand for retinoid X receptors (RXRs) is 9-cis retinoic acid (PubMed:1310260). In the absence of ligand, the RXR-RAR heterodimers associate with a multiprotein complex containing transcription corepressors that induce histone deacetylation, chromatin condensation and transcriptional suppression (PubMed:20215566). On ligand binding, the corepressors dissociate from the receptors and coactivators are recruited leading to transcriptional activation (PubMed:20215566, PubMed:37478846, PubMed:9267036). Serves as a common heterodimeric partner for a number of nuclear receptors, such as RARA, RARB and PPARA (PubMed:10195690, PubMed:11915042, PubMed:28167758, PubMed:29021580). The RXRA/RARB heterodimer can act as a transcriptional repressor or transcriptional activator, depending on the RARE DNA element context (PubMed:29021580). The RXRA/PPARA heterodimer is required for PPARA transcriptional activity on fatty acid oxidation genes such as ACOX1 and the P450 system genes (PubMed:10195690). Together with RARA, positively regulates microRNA-10a expression, thereby inhibiting the GATA6/VCAM1 signaling response to pulsatile shear stress in vascular endothelial cells (PubMed:28167758). Acts as an enhancer of RARA binding to RARE DNA element (PubMed:28167758). May facilitate the nuclear import of heterodimerization partners such as VDR and NR4A1 (PubMed:12145331, PubMed:15509776). Promotes myelin debris phagocytosis and remyelination by macrophages (PubMed:26463675). Plays a role in the attenuation of the innate immune system in response to viral infections, possibly by negatively regulating the transcription of antiviral genes such as type I IFN genes (PubMed:25417649). Involved in the regulation of calcium signaling by repressing ITPR2 gene expression, thereby controlling cellular senescence (PubMed:30216632)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Receptor for retinoic acid that acts as a transcription factor. Forms homo- or heterodimers with retinoic acid receptors (rars) and binds to target response elements in response to their ligands, all-trans or 9-cis retinoic acid, to regulate gene expression in various biological processes., [UniProtKB, UniProtKB]; Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by binding as homodimers or heterodimers to specific sequences in the promoters of target genes. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]; SNP rs11185644 in RXRA gene and SNP rs2235544 in DIO1 gene predict dosage requirements in a cross-sectional sample of hypothyroid patients. Publication Status: Online-Only, [RefSeq, PubMed]; Stationary-to-migratory transition in glioblastoma stem-like cells driven by a fatty acid-binding protein 7-RXRalpha neurogenic pathway., [RefSeq, PubMed]; ZNF148 inhibits HBV replication by downregulating RXRalpha transcription. Erratum:[Virol J. 2024 Jun 25;21(1):145. doi: 10.1186/s12985-024-02420-z. PMID: 38918845] 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": 15, "reported_glycation": 0, "reported_snv": 15, "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": "B3KY83;Q2NL52;Q2V504", "ec_number_list": [], "go_molecular_function": "GO:0050693 LBD domain binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0043235 receptor complex", "go_biological_process": "GO:0045834 positive regulation of lipid metabolic process;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0010875 positive regulation of cholesterol efflux;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 57.3, "record_id": "P19793-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16633-1", "uniprot_id": [ { "id": "OBF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16633", "type": "external" } ], "mass": 27436.0, "length": 256, "protein_name": "POU domain class 2-associating factor 1", "gene_name": "POU2AF1", "organism": "Human", "refseq_name": "POU domain class 2-associating factor 1", "refseq_ac": [ { "id": "NP_006226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006226", "type": "external" } ], "gene_names_uniprotkb": "POU2AF1; BOB1; OBF1", "gene_names_refseq": "BOB1; OBF-1; OBF1; OCAB; POU2AF1", "protein_names_uniprotkb": "POU domain class 2-associating factor 1; B-cell-specific coactivator OBF-1; BOB-1; OCA-B; OCT-binding factor 1", "protein_names_refseq": "B-cell-specific coactivator OBF-1; BOB-1; OCA-B; OCT-binding factor 1; POU class 2 associating factor 1; POU domain class 2-associating factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5450)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "10358176;10541551;11237011;11466336;11483517;11483518;15116427;22544926;23481700;23783831;24029068;24715725;25502872;25576301;25892735;26154972;26375851;26992070;27397612;27846572;27862975;27920218;28228285;28446606;28467828;28514659;28832583;28904123;29242379;29351928;29393594;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30524438;30626607;31092671;31154438;31217245;31844290;31937595;32157095;32357974;32502341;32897882;32983136;33141586;33298915;33691108;33717175;33912179;33936100;34357683;34623901;34932366;35051231;35154160;35561310;35576971;35580925;36284347;36480042;37938771;38254723;7623806;7734418;7779176;7859290;8574789;9029102;9211847", "class_list": "", "function": "Four Genes Predictive for the Severity of Hematological Damage Reveal a Similar Response after X Irradiation and Chemotherapy., [RefSeq, PubMed]; Integrated single-cell transcriptomics and epigenomics reveals strong germinal center-associated etiology of autoimmune risk loci., [RefSeq, PubMed]; Transcriptional Coactivator BOB1 (OBF1, OCA-B) Modulates the Specificity of DNA Recognition by the POU-Domain Factors OCT1 and OCT2 in a Monomeric Configuration. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional coactivator that specifically associates with either POU2F1/OCT1 or POU2F2/OCT2 (PubMed:7859290). It boosts the POU2F1/OCT1 mediated promoter activity and to a lesser extent, that of POU2F2/OCT2 (PubMed:7779176). It recognizes the POU domains of POU2F1/OCT1 and POU2F2/OCT2 (PubMed:7779176). It is essential for the response of B-cells to antigens and required for the formation of germinal centers (PubMed:7623806, PubMed:7859290). Regulates IL6 expression in B cells as POU2F2/OCT2 coactivator (By similarity)., [UniProtKB, PubMed, PubMed, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R8Z9;Q14983", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0070974 POU domain binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0032755 positive regulation of interleukin-6 production;GO:0002314 germinal center B cell differentiation;GO:0006959 humoral immune response", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q16633-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z429-1", "uniprot_id": [ { "id": "LFG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z429", "type": "external" } ], "mass": 41203.0, "length": 371, "protein_name": "Protein lifeguard 1", "gene_name": "GRINA", "organism": "Human", "refseq_name": "protein lifeguard 1", "refseq_ac": [ { "id": "NP_000828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000828", "type": "external" } ], "gene_names_uniprotkb": "GRINA; LFG1; NMDARA1; TMBIM3", "gene_names_refseq": "GRINA; HNRGW; LFG1; NMDARA1; TMBIM3", "protein_names_uniprotkb": "Protein lifeguard 1; Glutamate [NMDA] receptor-associated protein 1; NMDA receptor glutamate-binding subunit; Putative MAPK-activating protein PM02; Transmembrane BAX inhibitor motif-containing protein 3", "protein_names_refseq": "NMDA receptor glutamate-binding subunit; glutamate [NMDA] receptor-associated protein 1; glutamate receptor, NMDA subtype, glutamate-binding subunit; glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding); lifeguard 1; protein lifeguard 1; putative MAPK-activating protein PM02; transmembrane BAX inhibitor motif containing 3; transmembrane BAX inhibitor motif-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:2907)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;12761501;19784873;25502872;25892735;27543614;27920218;28228285;28514659;28855257;28904123;29393594;29557506;29769354;30315122;30410026;30484775;30730609;30833945;31154438;31217245;31426446;31844290;31937595;32157095;32357974;32387766;32657216;32938616;32983136;33912179;34087483;34171305;34357683;34368871;34433824;35051231;36215666;36241641;36284347;37938771;38253038;8406459", "class_list": "", "function": "Glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1, a potential target of miR-296, facilitates proliferation and migration of rectal cancer cells., [RefSeq, PubMed]; Glutamate receptor, ionotropic, Nmethyl Daspartateassociated protein 1 promotes colorectal cancer cell proliferation and metastasis, and is negatively regulated by miR2963p., [RefSeq, PubMed]; PLEC encodes plectin, a cytoskeletal protein that maintains tissue integrity. GRINA encodes TMBIM3, which regulates cell survival. We hypothesized that in a joint predisposed to Osteoarthritis (OA), expression of these genes alters to combat aberrant biomechanics and is epigenetically regulated. However, carriage of the OA risk-conferring allele at this locus hinders this response and contributes to disease development., [RefSeq, PubMed]; Potential apoptotic regulator., [UniProtKB]; The cytoplasmic N-terminal half of GRINA (which spans a Proline-rich domain) contains a potential DNA-binding sequence, in addition to cleavage target sites and probable PY-nuclear localization sequences, that may enable it to be released from the rest of the protein and enter the nucleus under suitable conditions, where it could participate in the transcription, alternative splicing, and mRNA export. [review] 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": 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": "B3KXM7;O43836;Q8IVW7", "ec_number_list": [], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0043524 negative regulation of neuron apoptotic process;GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q7Z429-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0VG99-1", "uniprot_id": [ { "id": "MESP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0VG99", "type": "external" } ], "mass": 41760.0, "length": 397, "protein_name": "Mesoderm posterior protein 2", "gene_name": "MESP2", "organism": "Human", "refseq_name": "mesoderm posterior protein 2", "refseq_ac": [ { "id": "NP_001035047", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035047", "type": "external" } ], "gene_names_uniprotkb": "MESP2; BHLHC6; SCDO2", "gene_names_refseq": "MESP2; SCDO2; bHLHc6", "protein_names_uniprotkb": "Mesoderm posterior protein 2; Class C basic helix-loop-helix protein 6; bHLHc6", "protein_names_refseq": "class C basic helix-loop-helix protein 6; mesoderm posterior 2 homolog; mesoderm posterior basic helix-loop-helix transcription factor 2; mesoderm posterior protein 2", "tax_id": 9606, "disease": "spondylocostal dysostosis 2 (Disease Ontology:DOID:0112362)", "pathway": " (hsa:145873); (R-HSA-9824272)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "11237011;14516699;15122512;16996494;18485326;22744456;28178531;30379171;32572506;35051231", "class_list": "", "function": "MESP2 variants contribute to conotruncal heart defects by inhibiting cardiac neural crest cell proliferation., [RefSeq, PubMed]; MESP2, HES7 and DUSP6 genes may not be involved in the etiopathogenesis of sporadic and non-syndromic CS in Chinese Han population., [RefSeq, PubMed]; Mesp1 is down-regulated in the later stages of development by increasing levels of Mesp2 in the wild-type embryo., [RefSeq, PubMed]; Mutated MESP2 causes spondylocostal dysostosis, [RefSeq, PubMed]; This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]., [RefSeq]; Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Also regulates the FGF signaling pathway. Specifies the rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch activity. Together with MESP1 is involved in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7RTU2", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization 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:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007219 Notch signaling pathway;GO:0003007 heart morphogenesis;GO:0001707 mesoderm formation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q0VG99-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VUG0-1", "uniprot_id": [ { "id": "SMBT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VUG0", "type": "external" } ], "mass": 100563.0, "length": 894, "protein_name": "Scm-like with four MBT domains protein 2", "gene_name": "SFMBT2", "organism": "Human", "refseq_name": "scm-like with four MBT domains protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001018049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018049", "type": "external" } ], "gene_names_uniprotkb": "SFMBT2; KIAA1617", "gene_names_refseq": "SFMBT2", "protein_names_uniprotkb": "Scm-like with four MBT domains protein 2; Scm-like with 4 MBT domains protein 2", "protein_names_refseq": "Scm-related gene containing four mbt domains 2; scm-like with 4 MBT domains protein 2; scm-like with four MBT domains protein 2 isoform 1; scm-like with four MBT domains protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57713)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;23385818;26992070;27340776;27543614;27846572;27869121;27920218;28228285;28832583;28834231;28855257;28904123;29242379;29786170;30315122;30429286;30484775;31844290;31848261;32387766;32502341;33166591;33392160;34171305;34185709;34825699;35051231;35580925;36215666;36241641;37217939;38071034;38734627", "class_list": "", "function": "Acetylation- and ubiquitination-regulated SFMBT2 acts as a tumor suppressor in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Circ-SFMBT2 facilitates the malignant growth of acute myeloid leukemia cells by modulating miR-582-3p/ZBTB20 pathway., [RefSeq, PubMed]; CircSFMBT2 facilitates vascular smooth muscle cell proliferation by targeting miR-331-3p/HDAC5., [RefSeq, PubMed]; Findings suggest that regulation of SFMBT2 may provide a new therapeutic strategy to control prostate cancer metastasis as well as being a potential biomarker of metastatic prostate cancer., [RefSeq, PubMed]; SFMBT2 may regulate cell growth via epigenetic regulation of HOXB13 gene expression in prostate cancer cells., [RefSeq, PubMed]; Transcriptional repressor of HOXB13 gene., [UniProtKB, PubMed]; [Effects of circ-SFMBT2 on Proliferation, Migration and Invasion of Acute Myeloid Leukemia Cells by Regulating miR-491-5p/HOXA9 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7MD09;Q9HCF5", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003714 transcription corepressor activity;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0010629 negative regulation of gene expression;GO:0045892 negative regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q5VUG0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVD9-1", "uniprot_id": [ { "id": "NUDC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVD9", "type": "external" } ], "mass": 40822.0, "length": 361, "protein_name": "NudC domain-containing protein 3", "gene_name": "NUDCD3", "organism": "Human", "refseq_name": "nudC domain-containing protein 3", "refseq_ac": [ { "id": "NP_056147", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056147", "type": "external" } ], "gene_names_uniprotkb": "NUDCD3; KIAA1068", "gene_names_refseq": "NUDCD3; NudCL", "protein_names_uniprotkb": "NudC domain-containing protein 3", "protein_names_refseq": "NudC-like protein; nudC domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:23386)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "16754861;17525332;17924679;19690332;19806165;20068231;22424782;22544926;23186163;23301498;23481700;24715725;25418920;25576301;25645385;25880248;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632711;29786170;30192525;30315122;30410026;30429286;30524438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;35051231;35580925;36010968;36241641;37938771;39302247", "class_list": "", "function": "Data characterize a previously undescribed mammalian NudC-like protein (NudCL), which appears to influence the stabilization of dynein intermediate chain, [RefSeq, PubMed]; Overexpression of NudCL inhibits cytokinesis, [RefSeq, PubMed]; The product of this gene functions to maintain the stability of dynein intermediate chain. Depletion of this gene product results in aggregation and degradation of dynein intermediate chain, mislocalization of the dynein complex from kinetochores, spindle microtubules, and spindle poles, and loss of gamma-tubulin from spindle poles. The protein localizes to the Golgi apparatus during interphase, and levels of the protein increase after the G1/S transition. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9BTI3;Q9H7W9;Q9UPT4", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005868 cytoplasmic dynein complex", "go_biological_process": "GO:1905793 protein localization to pericentriolar material;GO:0060271 cilium assembly;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q8IVD9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17041-1", "uniprot_id": [ { "id": "ZNF32_HUMAN", "url": "https://www.uniprot.org/uniprot/P17041", "type": "external" } ], "mass": 31029.0, "length": 273, "protein_name": "Zinc finger protein 32", "gene_name": "ZNF32", "organism": "Human", "refseq_name": "zinc finger protein 32 isoform a", "refseq_ac": [ { "id": "NP_001005368", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005368", "type": "external" } ], "gene_names_uniprotkb": "ZNF32; KOX30", "gene_names_refseq": "KOX30; ZNF32; ZNF637; Zfp637", "protein_names_uniprotkb": "Zinc finger protein 32; C2H2-546; Zinc finger protein KOX30", "protein_names_refseq": "C2H2-546; zinc finger protein 32 (KOX 30); zinc finger protein 32 isoform a; zinc finger protein KOX30", "tax_id": 9606, "disease": "", "pathway": " (hsa:7580)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "2288909;26992070;28834231;30478301;31154438;34185709;35115495;35580925;36934389;9475118", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; We conclude that ZNF32 can engage GPER/ERK signalling and confer breast cancer stem cell-like properties, which may indicate poor prognosis of breast cancer patients. ZNF32 and GPER targeted therapies might provide new solutions for breast cancer treatment. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF32 prevents the activation of cancer-associated fibroblasts through negative regulation of TGFB1 transcription in breast cancer., [RefSeq, PubMed]; ZNF32 promotes the self-renewal of colorectal cancer cells by regulating the LEPR-STAT3 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q92951", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "P17041-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00266-1", "uniprot_id": [ { "id": "METK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00266", "type": "external" } ], "mass": 43648.0, "length": 395, "protein_name": "S-adenosylmethionine synthase isoform type-1", "gene_name": "MAT1A", "organism": "Human", "refseq_name": "S-adenosylmethionine synthase isoform type-1", "refseq_ac": [ { "id": "NP_000420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000420", "type": "external" } ], "gene_names_uniprotkb": "MAT1A; AMS1; MATA1", "gene_names_refseq": "MAT1A; MATA1; MAT; SAMS1; SAMS", "protein_names_uniprotkb": "S-adenosylmethionine synthase isoform type-1; 2.5.1.6; AdoMet synthase 1; MAT 1; MAT-I/III; Methionine adenosyltransferase 1; Methionine adenosyltransferase I/III", "protein_names_refseq": "MAT 1; MAT-I/III; S-adenosylmethionine synthase isoform type-1; adoMet synthase 1; adoMet synthetase 1; methionine adenosyltransferase 1; methionine adenosyltransferase I, alpha; methionine adenosyltransferase I/III", "tax_id": 9606, "disease": "hypermethioninemia (Disease Ontology:DOID:0050544); lipid metabolism disorder (Disease Ontology:DOID:3146); amino acid metabolic disorder (Disease Ontology:DOID:9252); methionine adenosyltransferase deficiency (MONDO:MONDO:0009607)", "pathway": " (hsa:4143); (R-HSA-156581); (R-HSA-1614635); (R-HSA-2408508); (R-HSA-5579024)", "pathway_count": 5, "publication_count": 86, "publication_id_list": "10331075;10513815;10514445;10644686;10677294;10978155;11237011;11511179;11578145;12163696;12590576;13981612;1483038;15788214;16037612;16267626;16407288;16444005;17074750;1711890;17451884;1772450;18230605;18457970;18539146;20164179;20383543;21193388;2339986;23425511;24734162;25418920;25645385;25892735;26154972;26929215;27570878;27920218;28063628;28228285;28467828;28832583;28855257;29242379;29393594;29557506;29632046;29769354;29786170;29789417;30315122;30429286;30484775;30779550;31154438;31844290;31848261;31998317;32157095;32161166;33298915;33592498;33633747;33717175;33968037;34211107;34357683;34509645;35051231;35091576;35251023;35580925;36241641;38086446;39438468;39894887;6456763;7305945;7560086;8393662;8770875;8968737;9042912;9175157;9482646;9586999", "class_list": "", "function": "Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate., [UniProtKB, PubMed]; Depletion of mitochondrial methionine adenosyltransferase alpha1 triggers mitochondrial dysfunction in alcohol-associated liver disease. Publication Status: Online-Only, [RefSeq, PubMed]; Hepatic prohibitin 1 and methionine adenosyltransferase alpha1 defend against primary and secondary liver cancer metastasis., [RefSeq, PubMed]; MAT1A activation of glycolysis to promote NSCLC progression depends on stabilizing CCND1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [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": 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": "D3DWD5;Q5QP09", "ec_number_list": [ { "id": "2.5.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.6", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0004478 methionine adenosyltransferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0048269 methionine adenosyltransferase complex", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0006730 one-carbon metabolic process;GO:0006556 S-adenosylmethionine biosynthetic process;GO:0009087 L-methionine catabolic process", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q00266-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q52LG2-1", "uniprot_id": [ { "id": "KR132_HUMAN", "url": "https://www.uniprot.org/uniprot/Q52LG2", "type": "external" } ], "mass": 18727.0, "length": 175, "protein_name": "Keratin-associated protein 13-2", "gene_name": "KRTAP13-2", "organism": "Human", "refseq_name": "keratin-associated protein 13-2", "refseq_ac": [ { "id": "NP_853652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_853652", "type": "external" } ], "gene_names_uniprotkb": "KRTAP13-2; KAP13.2", "gene_names_refseq": "KAP13-2; KRTAP13-2", "protein_names_uniprotkb": "Keratin-associated protein 13-2", "protein_names_refseq": "keratin-associated protein 13-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:337959); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (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": 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:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q52LG2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1L3X4-1", "uniprot_id": [ { "id": "MT1DP_HUMAN", "url": "https://www.uniprot.org/uniprot/A1L3X4", "type": "external" } ], "mass": 4983.0, "length": 49, "protein_name": "Putative metallothionein MT1DP", "gene_name": "MT1DP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MT1DP; MTM", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative metallothionein MT1DP", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Metallothioneins have a high content of cysteine residues that bind various heavy metals., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86YX1", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0071276 cellular response to cadmium ion;GO:0071280 cellular response to copper ion;GO:0010273 detoxification of copper ion;GO:0006882 intracellular zinc ion homeostasis;GO:0071294 cellular response to zinc ion", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A1L3X4-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NV56-1", "uniprot_id": [ { "id": "MRGBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NV56", "type": "external" } ], "mass": 22417.0, "length": 204, "protein_name": "MRG/MORF4L-binding protein", "gene_name": "MRGBP", "organism": "Human", "refseq_name": "MRG/MORF4L-binding protein", "refseq_ac": [ { "id": "NP_060740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060740", "type": "external" } ], "gene_names_uniprotkb": "MRGBP; C20orf20", "gene_names_refseq": "C20orf20; Eaf7; MRG15BP; MRGBP; URCC4", "protein_names_uniprotkb": "MRG/MORF4L-binding protein; MRG-binding protein; Up-regulated in colon cancer 4; Urcc4", "protein_names_refseq": "MRG-binding protein; MRG/MORF4L binding protein; MRG/MORF4L-binding protein; up-regulated in colon cancer 4", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:55257); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10786633;10821277;12963728;15313887;16387653;16964243;18381289;18623064;18669648;19187765;19413330;19664995;19690332;20018852;20068230;20068231;23186163;23301498;24275569;26992070;28832583;28855257;30429286;31092671;31844290;32161166;32357974;32387766;32938616;33298915;33354938;33592498;33761715;33968037;34019948;34405274;35051231;36208716;37217939;9427644;9558366;9880483", "class_list": "", "function": "Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage., [UniProtKB]; MRGBP is a potential novel prognostic biomarker and is correlated with immune infiltrates in hepatocellular carcinoma., [RefSeq, PubMed]; MRGBP is encoded by the FLJ10914 ORF and is a new component of the TRRAP/TIP60 HAT complex, [RefSeq, PubMed]; MRGBP promotes colorectal cancer metastasis via DKK1/Wnt/beta-catenin and NF-kB/p65 pathways mediated EMT., [RefSeq, PubMed]; MRGBP, a member of the NuA4 complex, inhibits DNA 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": 6, "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": "A8C4L5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0035267 NuA4 histone acetyltransferase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0006325 chromatin organization;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9NV56-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17677-1", "uniprot_id": [ { "id": "NEUM_HUMAN", "url": "https://www.uniprot.org/uniprot/P17677", "type": "external" } ], "mass": 24803.0, "length": 238, "protein_name": "Neuromodulin", "gene_name": "GAP43", "organism": "Human", "refseq_name": "neuromodulin isoform 1", "refseq_ac": [ { "id": "NP_001123536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123536", "type": "external" } ], "gene_names_uniprotkb": "GAP43", "gene_names_refseq": "B-50; GAP-43; GAP43; PP46", "protein_names_uniprotkb": "Neuromodulin; Axonal membrane protein GAP-43; Growth-associated protein 43; Neural phosphoprotein B-50; pp46", "protein_names_refseq": "axonal membrane protein GAP-43; calmodulin-binding protein P-57; nerve growth-related peptide GAP43; neural phosphoprotein B-50; neuromodulin isoform 1; neuromodulin; neuron growth-associated protein 43; protein F1", "tax_id": 9606, "disease": "middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:2596); (R-HSA-373760)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10209246;10391209;11124896;14978216;1533624;16000162;16212546;16330713;17326767;1824693;1828073;18510355;18654638;19249369;21152083;2136704;2140056;25165142;28657654;29557506;30240740;30778286;31154438;3272162;3272163;34932366;35347634;35608791;36739296;36963347;37169842;37217939;37852045;38339928;8231732;8263528;8694767;9133376;9622012", "class_list": "", "function": "Association of APOE-epsilon4 and GAP-43-related presynaptic loss with beta-amyloid, tau, neurodegeneration, and cognitive decline., [RefSeq, PubMed]; Associations of Growth-Associated Protein 43 with Cerebral Microbleeds: A Longitudinal Study., [RefSeq, PubMed]; GAP43-dependent mitochondria transfer from astrocytes enhances glioblastoma tumorigenicity., [RefSeq, PubMed]; Growth associated protein 43 deficiency promotes podocyte injury by activating the calmodulin/calcineurin pathway under hyperglycemia., [RefSeq, PubMed]; Impact of GAP-43, Cx43 and actin expression on the outcome and overall survival in diffuse and anaplastic gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; This protein is associated with nerve growth. It is a major component of the motile 'growth cones' that form the tips of elongating axons. Plays a role in axonal and dendritic filopodia induction., [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": 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": 15, "reported_mutagensis": 1, "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": "A8K0Y4", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0001786 phosphatidylserine binding;GO:1901981 phosphatidylinositol phosphate binding;GO:0035727 lysophosphatidic acid binding", "go_cellular_component": "GO:0032584 growth cone membrane;GO:0098982 GABA-ergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0014069 postsynaptic density", "go_biological_process": "GO:0016198 axon choice point recognition;GO:0040008 regulation of growth;GO:0009611 response to wounding;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0010996 response to auditory stimulus", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "P17677-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969Q0-1", "uniprot_id": [ { "id": "RL36L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969Q0", "type": "external" } ], "mass": 12469.0, "length": 106, "protein_name": "Ribosomal protein eL42-like", "gene_name": "RPL36AL", "organism": "Human", "refseq_name": "ribosomal protein eL42-like", "refseq_ac": [ { "id": "NP_000992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000992", "type": "external" } ], "gene_names_uniprotkb": "RPL36AL", "gene_names_refseq": "RPL36AL; RPL36AP42; RPL36A_18_1363; RPL36A", "protein_names_uniprotkb": "Ribosomal protein eL42-like; 60S ribosomal protein L36a-like; Large ribosomal subunit protein eL42-like", "protein_names_refseq": "60S ribosomal protein L36a-like; large ribosomal subunit protein eL42-like; ribosomal protein HL44; ribosomal protein L36a pseudogene 42; ribosomal protein eL42-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:6166); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 17, "publication_count": 205, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12490704;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20305658;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22190735;22195017;22916032;23085078;23217742;23234702;23269699;23439679;23482395;23685075;23746841;2388630;24424021;24550520;25132172;25242263;25418920;25525153;25576301;25578875;25969445;26237581;26992070;27526673;27600516;27920218;28063628;28065601;28132843;28228285;28685749;28832583;28904123;29242379;29393594;29413899;29508533;29557506;29632046;29632312;29632711;30244831;30293783;30779550;30804176;31011209;31154438;31844290;31848261;32099016;32161166;32265295;32579943;33214551;33298915;33406423;33909987;33912179;34019948;3542712;35580925;36302773;36581221;37217939;37676773;38665916;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9045906;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3B7A5", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0022625 cytosolic large ribosomal subunit", "go_biological_process": "GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 20.8, "record_id": "Q969Q0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK11-1", "uniprot_id": [ { "id": "ZN223_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK11", "type": "external" } ], "mass": 55763.0, "length": 482, "protein_name": "Zinc finger protein 223", "gene_name": "ZNF223", "organism": "Human", "refseq_name": "zinc finger protein 223", "refseq_ac": [ { "id": "NP_037493", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037493", "type": "external" } ], "gene_names_uniprotkb": "ZNF223", "gene_names_refseq": "ZNF223", "protein_names_uniprotkb": "Zinc finger protein 223", "protein_names_refseq": "Homo sapiens zinc finger protein 223; KRAB A domain; zinc finger protein 223", "tax_id": 9606, "disease": "", "pathway": " (hsa:7766); (R-HSA-212436)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10235266;10330177;11237011;11395415;12743021;14519192;15175151;15896744;16606702;16719718;2163759;29557506;29632711;34087483;36010968;8183939;8617494;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a protein containing a Kruppel-associated box domain and multiple zinc finger domains. The function of this protein has yet to be determined. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q15736;Q8TBJ3;Q9HCA9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9UK11-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31314-1", "uniprot_id": [ { "id": "TLX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P31314", "type": "external" } ], "mass": 34365.0, "length": 330, "protein_name": "T-cell leukemia homeobox protein 1", "gene_name": "TLX1", "organism": "Human", "refseq_name": "T-cell leukemia homeobox protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001182446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182446", "type": "external" } ], "gene_names_uniprotkb": "TLX1; HOX11; TCL3", "gene_names_refseq": "HOX11; TCL3; TLX1", "protein_names_uniprotkb": "T-cell leukemia homeobox protein 1; Homeobox protein Hox-11; Proto-oncogene TCL-3; T-cell leukemia/lymphoma protein 3", "protein_names_refseq": "T-cell leukemia homeobox protein 1 isoform 2; T-cell leukemia/lymphoma protein 3; homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch); homeobox protein Hox-11; proto-oncogene TCL-3", "tax_id": 9606, "disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523)", "pathway": " (hsa:3195)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10393251;11237011;1352396;1676542;1681546;1717256;17303350;19559479;19608861;20846384;26992070;27862975;29954933;30107177;32488880;33091337;35051231;7518789;9778044", "class_list": "", "function": "Association of TLX1 gene polymorphisms with the risk of acute lymphoblastic leukemia and B lineage acute lymphoblastic leukemia in Han Chinese children., [RefSeq, PubMed]; Controls the genesis of the spleen. Binds to the DNA sequence 5'-GGCGGTAAGTGG-3'., [UniProtKB]; Data show that among all long non-coding RNAs (lncRNAs), 82 are differentially regulated upon T cell leukemia homeobox 1 protein (TLX1) knockdown, of which 30 are directly bound by TLX1., [RefSeq, PubMed]; Oncogenic kinase NUP214-ABL1, through its downstream effector STAT5, directly cooperates with TLX1 at the transcriptional level., [RefSeq, PubMed]; This gene encodes a nuclear transcription factor that belongs to the NK-linked or NK-like (NKL) subfamily of homeobox genes. The encoded protein is required for normal development of the spleen during embryogenesis. This protein is also involved in specification of neuronal cell fates. Ectopic expression of this gene due to chromosomal translocations is associated with certain T-cell acute lymphoblastic leukemias. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A1L4G3;O75699;Q5VXP2;Q9HCA0;Q9UD59", "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:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0048513 animal organ development", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "P31314-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11226-1", "uniprot_id": [ { "id": "MBL2_HUMAN", "url": "https://www.uniprot.org/uniprot/P11226", "type": "external" } ], "mass": 26144.0, "length": 248, "protein_name": "Mannose-binding protein C", "gene_name": "MBL2", "organism": "Human", "refseq_name": "mannose-binding protein C precursor", "refseq_ac": [ { "id": "NP_000233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000233", "type": "external" } ], "gene_names_uniprotkb": "MBL2; COLEC1; MBL", "gene_names_refseq": "COLEC1; HSMBPC; MBL2D; MBL2; MBL; MBP-C; MBP1; MBPD; MBP", "protein_names_uniprotkb": "Mannose-binding protein C; Collectin-1; MBP-C; MBP1; Mannan-binding protein; Mannose-binding lectin", "protein_names_refseq": "collectin-1; mannan-binding lectin; mannose-binding lectin (protein C) 2, soluble (opsonic defect); mannose-binding lectin 2, soluble (opsonic defect); mannose-binding protein C precursor; mannose-binding protein C", "tax_id": 9606, "disease": "invasive aspergillosis (Disease Ontology:DOID:0050073); disease by infectious agent (Disease Ontology:DOID:0050117); Kartagener syndrome (Disease Ontology:DOID:0050144); chorioamnionitis (Disease Ontology:DOID:0050697); respiratory allergy (Disease Ontology:DOID:0060496); Cryptococcal meningitis (Disease Ontology:DOID:0080159); lupus nephritis (Disease Ontology:DOID:0080162); Coronavirus infectious disease (Disease Ontology:DOID:0080599); sensorineural hearing loss (Disease Ontology:DOID:10003); dermatomyositis (Disease Ontology:DOID:10223); bacterial infectious disease (Disease Ontology:DOID:104); Legionnaires' disease (Disease Ontology:DOID:10457); Alzheimer's disease (Disease Ontology:DOID:10652); primary open angle glaucoma (Disease Ontology:DOID:1070); otitis media (Disease Ontology:DOID:10754); lepromatous leprosy (Disease Ontology:DOID:10887); respiratory failure (Disease Ontology:DOID:11162); adult respiratory distress syndrome (Disease Ontology:DOID:11394); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); common variable immunodeficiency (Disease Ontology:DOID:12177); vitiligo (Disease Ontology:DOID:12306); bronchopneumonia (Disease Ontology:DOID:12375); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); allergic bronchopulmonary aspergillosis (Disease Ontology:DOID:13166); lung cancer (Disease Ontology:DOID:1324); Behcet's disease (Disease Ontology:DOID:13241); temporal arteritis (Disease Ontology:DOID:13375); Kawasaki disease (Disease Ontology:DOID:13378); coccidioidomycosis (Disease Ontology:DOID:13450); Plasmodium falciparum malaria (Disease Ontology:DOID:14067); toxic shock syndrome (Disease Ontology:DOID:14115); cystic fibrosis (Disease Ontology:DOID:1485); fungal infectious disease (Disease Ontology:DOID:1564); thrombocytopenia (Disease Ontology:DOID:1588); cryptosporidiosis (Disease Ontology:DOID:1733); hepatitis C (Disease Ontology:DOID:1883); hepatitis B (Disease Ontology:DOID:2043); vulvovaginal candidiasis (Disease Ontology:DOID:2272); leptospirosis (Disease Ontology:DOID:2297); ovarian cancer (Disease Ontology:DOID:2394); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); bipolar disorder (Disease Ontology:DOID:3312); bacterial vaginosis (Disease Ontology:DOID:3385); peripheral vascular disease (Disease Ontology:DOID:341); pulmonary fibrosis (Disease Ontology:DOID:3770); liver disease (Disease Ontology:DOID:409); coronary restenosis (Disease Ontology:DOID:4247); rhinitis (Disease Ontology:DOID:4483); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); pneumonia (Disease Ontology:DOID:552); aortic valve insufficiency (Disease Ontology:DOID:57); panic disorder (Disease Ontology:DOID:594); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); hepatocellular carcinoma (Disease Ontology:DOID:684); autoimmune thyroiditis (Disease Ontology:DOID:7188); end stage renal disease (Disease Ontology:DOID:783); polymyalgia rheumatica (Disease Ontology:DOID:853); herpes simplex (Disease Ontology:DOID:8566); bacterial pneumonia (Disease Ontology:DOID:874); Crohn's disease (Disease Ontology:DOID:8778); psoriasis (Disease Ontology:DOID:8893); systemic lupus erythematosus (Disease Ontology:DOID:9074); visceral leishmaniasis (Disease Ontology:DOID:9146); pemphigus (Disease Ontology:DOID:9182); bronchiectasis (Disease Ontology:DOID:9563); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); hepatitis B virus, susceptibility to (MONDO:MONDO:0012488); mannose-binding lectin deficiency (MONDO:MONDO:0013714)", "pathway": " (hsa:4153); (R-HSA-166662); (R-HSA-166663); (R-HSA-9705671); (R-HSA-9920588)", "pathway_count": 5, "publication_count": 127, "publication_id_list": "10447262;10639434;10888598;10925294;11532276;12019269;12175909;12396008;12692549;12759408;1303250;1304173;14280442;14515269;1458688;15145932;15199963;15208624;15472209;15489334;15728497;15955802;15994813;16116208;1672848;1675710;16912583;18006063;18496526;19754307;21566123;21695215;22941947;22966085;23460739;23719902;24173023;24275569;2450948;2477486;2573758;2590164;26173080;27832191;28764923;29557506;29563915;30550790;31850239;31867016;32152943;32353859;32428392;32432721;32589897;32726803;32728199;32778820;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33270011;33349665;33360543;33362211;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33515713;33567255;33679736;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33963333;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34480982;34502139;34597346;35051231;35102342;35643212;37051252;37204457;37231213;37558798;38167099;6019133;6643429;70787;7391573;7634089;7707811;7982896;8082295;8206524;8315383;8538770;9087411;9743385", "class_list": "glycogene", "function": "Association between mannose binding lectin gene polymorphisms and clinical severity of COVID-19 in children., [RefSeq, PubMed]; Association of MBL2 gene polymorphisms and MBL levels with dilated cardiomyopathy in a Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; Association of mannose binding lectin with chronic obstructive pulmonary disease susceptibility and its clinical outcomes., [RefSeq, PubMed]; Calcium-dependent lectin, which acts as a pattern recognition receptor that initiates the lectin pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:14515269, PubMed:22966085, PubMed:7634089, PubMed:9087411). Specifically recognizes and binds the mannose moiety of carbohydrates on the pathogen surface, activating the MASP1 serine protease and initiating the proteolytic cascade of the lectin complement pathway (PubMed:22966085, PubMed:2573758, PubMed:6643429, PubMed:8082295, PubMed:9087411). Upon SARS coronavirus-2/SARS-CoV-2 infection, activates the complement lectin pathway which leads to the inhibition SARS-CoV-2 infection and a reduction of the induced inflammatory response (PubMed:35102342). May bind DNA (PubMed:15145932)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mannose-binding lectin gene 2 variant DD (rs 5030737) is associated with susceptibility to COVID-19 infection in the urban population of Patna City (India)., [RefSeq, PubMed]; This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes and binds to mannose and N-acetylglucosamine on many microorganisms, including bacteria, yeast, and viruses including influenza virus, HIV and SARS-CoV. This binding activates the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jun 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "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": 403, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 75, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4VB12;Q4VB13;Q4VB14;Q5SQS3;Q86SI4;Q96KE4;Q96TF7;Q96TF8;Q96TF9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0048306 calcium-dependent protein binding;GO:0005537 D-mannose binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0009986 cell surface;GO:0009897 external side of plasma membrane;GO:0005771 multivesicular body", "go_biological_process": "GO:0006508 proteolysis;GO:0006979 response to oxidative stress;GO:0043129 surfactant homeostasis;GO:0045087 innate immune response;GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "P11226-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000100000000.010.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDW0-1", "uniprot_id": [ { "id": "LRC8C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDW0", "type": "external" } ], "mass": 92450.0, "length": 803, "protein_name": "Volume-regulated anion channel subunit LRRC8C", "gene_name": "LRRC8C", "organism": "Human", "refseq_name": "volume-regulated anion channel subunit LRRC8C isoform X2", "refseq_ac": [ { "id": "XP_011540584", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011540584", "type": "external" } ], "gene_names_uniprotkb": "LRRC8C; AD158; FAD158", "gene_names_refseq": "AD158; FAD158; LRRC8C; TIMES", "protein_names_uniprotkb": "Volume-regulated anion channel subunit LRRC8C; Factor for adipocyte differentiation 158; Leucine-rich repeat-containing protein 8C", "protein_names_refseq": "volume-regulated anion channel subunit LRRC8C isoform X2", "tax_id": 9606, "disease": "telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature (MONDO:MONDO:0975957)", "pathway": " (hsa:84230); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10.1101/2023.09.13.557529;10571941;11230166;11237011;11326272;11326338;11401429;12297987;12297989;12951058;13130483;14984739;15564382;15804357;17166836;18057121;18083107;18347014;1840603;18930737;19262752;1955075;19664994;19717468;22119785;22532330;22649030;23169667;23186163;23481700;24715725;24725410;24790029;25576301;26154972;26620797;26635246;26824658;26992070;27102039;27600516;27846572;27862975;28193731;28228285;28832583;28904123;29242379;29314611;29493099;29557506;29632711;29786170;29789417;29925591;30315122;30429286;30459171;30524438;31844290;32157095;32162841;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33171122;33298915;33592498;33912179;33936100;33968037;33981976;34171305;34185709;34357683;34509645;34561969;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36284347;36897307;37938771;39623139;4018271;7615546;7619062;7749638;9114041;9537412", "class_list": "", "function": "Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:26824658, PubMed:28193731, PubMed:36897307, PubMed:39623139). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24790029, PubMed:26824658, PubMed:28193731). Plays a redundant role in the efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress (PubMed:24790029, PubMed:26824658, PubMed:28193731). The VRAC channel also mediates transport of immunoreactive cyclic dinucleotide GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol (PubMed:33171122). Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731)., [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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 9234, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B3KXS9;Q29RV6;Q9H075", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0005225 volume-sensitive anion channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0098656 monoatomic anion transmembrane transport;GO:0015734 taurine transmembrane transport;GO:0071470 cellular response to osmotic stress;GO:0034214 protein hexamerization;GO:0015810 aspartate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q8TDW0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NSU2-3", "uniprot_id": [ { "id": "TREX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NSU2", "type": "external" } ], "mass": 33212.0, "length": 314, "protein_name": "Three-prime repair exonuclease 1", "gene_name": "TREX1", "organism": "Human", "refseq_name": "three-prime repair exonuclease 1 isoform c", "refseq_ac": [ { "id": "NP_009179", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009179", "type": "external" } ], "gene_names_uniprotkb": "TREX1", "gene_names_refseq": "AGS1; CRV; DRN3; HERNS; RVCLS; TREX1", "protein_names_uniprotkb": "Three-prime repair exonuclease 1; 3'-5' exonuclease TREX1; 3.1.11.2; DNase III; Deoxyribonuclease III", "protein_names_refseq": "3' repair exonuclease 1; 3'-5' exonuclease TREX1; DNase III; deoxyribonuclease III; three-prime repair exonuclease 1 isoform c", "tax_id": 9606, "disease": "cutaneous lupus erythematosus (Disease Ontology:DOID:0050169); Aicardi-Goutieres syndrome (Disease Ontology:DOID:0050629); Chilblain lupus (Disease Ontology:DOID:0060386); retinal vasculopathy with cerebral leukodystrophy (Disease Ontology:DOID:0111567); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:11277); (R-HSA-3248023); (R-HSA-3270619)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10391904;10393201;11035028;11278605;11839743;12133833;12692549;15210742;16281057;16306936;16818237;16845398;17081983;17293595;17357087;17440703;17483521;17526488;17660818;17660820;17846997;18045533;18583934;18669648;18818105;19007248;19307177;19433799;19776740;19926846;20131292;20799324;20871604;22394562;22579474;22619329;23160154;23186163;23481700;23979357;23993650;24275569;24560620;27920218;28063628;28228285;28832583;29242379;29508533;29557506;29632046;29632711;29786170;30429286;30524438;31844290;32387766;32897882;32938616;32983136;33298915;33476576;33717175;33936100;33968037;34171305;34561969;34932366;35051231;35580925;38926338", "class_list": "", "function": "A review of the putative functions of TREX1 in relationship to the clinical, genetic and functional characteristics of several diseases caused by mutations in TREX1. Review article, [RefSeq, PubMed]; MRE11 and TREX1 control senescence by coordinating replication stress and interferon signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Major cellular 3'-to-5' DNA exonuclease which digests single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3' termini (PubMed:10391904, PubMed:10393201, PubMed:17293595). Prevents cell-intrinsic initiation of autoimmunity (PubMed:10391904, PubMed:10393201, PubMed:17293595). Acts by metabolizing DNA fragments from endogenous retroelements, including L1, LTR and SINE elements (PubMed:10391904, PubMed:10393201, PubMed:17293595). Plays a key role in degradation of DNA fragments at cytosolic micronuclei arising from genome instability: its association with the endoplasmic reticulum membrane directs TREX1 to ruptured micronuclei, leading to micronuclear DNA degradation (PubMed:33476576). Micronuclear DNA degradation is required to limit CGAS activation and subsequent inflammation (PubMed:33476576). Unless degraded, these DNA fragments accumulate in the cytosol and activate the cGAS-STING innate immune signaling, leading to the production of type I interferon (PubMed:33476576). Prevents chronic ATM-dependent checkpoint activation, by processing ssDNA polynucleotide species arising from the processing of aberrant DNA replication intermediates (PubMed:18045533). Inefficiently degrades oxidized DNA, such as that generated upon antimicrobial reactive oxygen production or upon absorption of UV light (PubMed:23993650). During GZMA-mediated cell death, contributes to DNA damage in concert with NME1 (PubMed:16818237). NME1 nicks one strand of DNA and TREX1 removes bases from the free 3' end to enhance DNA damage and prevent DNA end reannealing and rapid repair (PubMed:16818237)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TREX1, encoding the major mammalian 3' --> 5' DNA exonuclease, is the AGS1 gene, and AGS-causing mutations result in abrogation of TREX1 enzyme activity., [RefSeq, PubMed]; This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RCN9;Q8TEU2;Q9BPW1;Q9Y4X2", "ec_number_list": [ { "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": "3.1.-.-", "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": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "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:0008301 DNA binding, bending;GO:0008296 3'-5'-DNA exonuclease activity;GO:0000287 magnesium ion binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0006260 DNA replication;GO:0006259 DNA metabolic process;GO:0006298 mismatch repair", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9NSU2-3", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75096-1", "uniprot_id": [ { "id": "LRP4_HUMAN", "url": "https://www.uniprot.org/uniprot/O75096", "type": "external" } ], "mass": 212045.0, "length": 1905, "protein_name": "Low-density lipoprotein receptor-related protein 4", "gene_name": "LRP4", "organism": "Human", "refseq_name": "low-density lipoprotein receptor-related protein 4 precursor", "refseq_ac": [ { "id": "NP_002325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002325", "type": "external" } ], "gene_names_uniprotkb": "LRP4; KIAA0816; LRP10; MEGF7", "gene_names_refseq": "CLSS; CMS17; LRP-4; LRP10; LRP4; MEGF7; SOST2", "protein_names_uniprotkb": "Low-density lipoprotein receptor-related protein 4; LRP-4; Multiple epidermal growth factor-like domains 7", "protein_names_refseq": "low-density lipoprotein receptor-related protein 4 precursor; low-density lipoprotein receptor-related protein 4; multiple EGF like domains 7; multiple epidermal growth factor-like domains 7", "tax_id": 9606, "disease": "sclerosteosis 2 (Disease Ontology:DOID:0060757); bone development disease (Disease Ontology:DOID:0080006); Cenani-Lenz syndactyly syndrome (Disease Ontology:DOID:0090015); congenital myasthenic syndrome 17 (Disease Ontology:DOID:0110674)", "pathway": " (hsa:4038); (R-HSA-3000178)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10022829;10339611;10673326;11084047;11237011;11259413;12225811;12868467;1376317;14715956;15075323;15296743;1544908;16293224;16493581;17588949;19079262;20005200;20381006;2059554;21471202;21642437;21789315;22134916;23481700;23584533;2364322;2412224;24190977;2420006;24234652;2430969;25576301;27600516;29351928;29557506;29789417;30429286;30459171;30779550;31844290;32157095;32350084;33091337;33592498;33981976;35051231;35251023;35580925;36241641;37074911;38013205;38065285;38101565;41162706;6193777;6439184;7499434;7527058;7542669;7559467;7685013;7693733;7852349;8002934;8440685;8798654;8943283;9252349;9294172;9341124;9346959;9685393;9693030;9949188", "class_list": "", "function": "(Microbial infection) Functions as a receptor for yellow fever virus., [UniProtKB, PubMed]; LRP4 mutations, dental anomalies, and oral exostoses., [RefSeq, PubMed]; LRP4 site-specific variants in the third beta-propeller domain causes congenital myasthenic syndrome type 17. Review article, [RefSeq, PubMed]; LRP4-related signalling pathways and their regulatory role in neurological diseases. Review article, [RefSeq, PubMed]; Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Alternatively, may be involved in the negative regulation of the canonical Wnt signaling pathway, being able to antagonize the LRP6-mediated activation of this pathway. More generally, has been proposed to function as a cell surface endocytic receptor binding and internalizing extracellular ligands for degradation by lysosomes. May play an essential role in the process of digit differentiation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The present studies suggest that LRP10 may play a significant role in the brain physiology other than lipoprotein metabolism., [RefSeq, PubMed]; This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 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": 7, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 4, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "B2RN39;Q4AC85;Q5KTZ5", "ec_number_list": [], "go_molecular_function": "GO:0015026 coreceptor activity;GO:0034185 apolipoprotein binding;GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding;GO:0001618 virus receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0014069 postsynaptic density;GO:0030425 dendrite;GO:0031594 neuromuscular junction", "go_biological_process": "GO:0097104 postsynaptic membrane assembly;GO:1904395 positive regulation of skeletal muscle acetylcholine-gated channel clustering;GO:0006897 endocytosis;GO:0050808 synapse organization;GO:0051124 synaptic assembly at neuromuscular junction", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O75096-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TA79-1", "uniprot_id": [ { "id": "LCE2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TA79", "type": "external" } ], "mass": 10846.0, "length": 106, "protein_name": "Late cornified envelope protein 2A", "gene_name": "LCE2A", "organism": "Human", "refseq_name": "late cornified envelope protein 2A", "refseq_ac": [ { "id": "NP_848515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848515", "type": "external" } ], "gene_names_uniprotkb": "LCE2A; LEP9", "gene_names_refseq": "LCE2A; LEP9", "protein_names_uniprotkb": "Late cornified envelope protein 2A; Late envelope protein 9", "protein_names_refseq": "late cornified envelope protein 2A; late envelope protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:353139); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;15854049;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;36804407;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Paper describing nomenclature changes and expression in range of tissues and in response to UV, [RefSeq, PubMed]; Precursors of the cornified envelope of the stratum corneum., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A4QMZ9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q5TA79-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13434-1", "uniprot_id": [ { "id": "MKRN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13434", "type": "external" } ], "mass": 52910.0, "length": 485, "protein_name": "Putative E3 ubiquitin-protein ligase makorin-4", "gene_name": "MKRN4P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MKRN4P; MKRN4; MKRNP5; RNF64; ZNF127L1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative E3 ubiquitin-protein ligase makorin-4; 2.3.2.27; Makorin RING finger protein pseudogene 4; Makorin RING finger protein pseudogene 5; RING finger protein 64; RING-type E3 ubiquitin transferase makorin-4; ZNF127-Xp; Zinc finger protein 127-Xp; Zinc finger protein 127-like 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 12, "publication_id_list": "27846572;29493099;31154438;31217245;31530632;31844290;31848261;31998317;32488085;32938616;33968037;35580925", "class_list": "", "function": "May act as a E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q13434-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10244-1", "uniprot_id": [ { "id": "MYBB_HUMAN", "url": "https://www.uniprot.org/uniprot/P10244", "type": "external" } ], "mass": 78764.0, "length": 700, "protein_name": "Myb-related protein B", "gene_name": "MYBL2", "organism": "Human", "refseq_name": "myb-related protein B isoform 2", "refseq_ac": [ { "id": "NP_001265539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265539", "type": "external" } ], "gene_names_uniprotkb": "MYBL2; BMYB", "gene_names_refseq": "B-MYB; BMYB; MYBL2", "protein_names_uniprotkb": "Myb-related protein B; B-Myb; Myb-like protein 2", "protein_names_refseq": "MYB-related protein B; myb-like protein 2; myb-related protein B isoform 2; v-myb avian myeloblastosis viral oncogene homolog-like 2; v-myb myeloblastosis viral oncogene homolog-like 2", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:4605); (R-HSA-1362300); (R-HSA-156711); (R-HSA-8869496)", "pathway_count": 4, "publication_count": 80, "publication_id_list": "10095772;10593981;10770937;11897663;11959842;12738781;15037762;15070733;15302935;15654331;17081983;17318229;17531812;17671431;18452278;19160488;19413330;19690332;20068231;21406692;22391450;23109430;23186163;23240008;23449447;23481700;24715725;25218447;25418920;25557911;25576301;25772364;26014440;26375851;26960196;26992070;27600516;28063628;28128338;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29557506;29632046;30206359;30321399;3060855;31092671;31217245;31530632;31844290;32357974;32502341;32938616;32979888;33691108;33912179;33936100;33968037;33981976;34087483;34171305;35051231;35254053;35561310;36284347;38336287;38786048;38827325;39113611;39136009;39894887;40596516;8062924;8703070;9840932", "class_list": "", "function": "CircMYBL2 facilitates hepatocellular carcinoma progression by regulating E2F1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Ectopic MYBL2-Mediated Regulation of Androglobin Gene Expression. Publication Status: Online-Only, [RefSeq, PubMed]; MYBL2 Drives Prostate Cancer Plasticity: Inhibiting Its Transcriptional Target CDK2 for RB1-Deficient Neuroendocrine Prostate Cancer., [RefSeq, PubMed]; Single-cell RNA sequencing reveals that MYBL2 in malignant epithelial cells is involved in the development and progression of ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]., [RefSeq]; Transcription factor involved in the regulation of cell survival, proliferation, and differentiation. Transactivates the expression of the CLU gene., [UniProtKB, PubMed]; Up-regulation of RAN by MYBL2 maintains osteosarcoma cancer stem-like cells population during heterogeneous tumor generation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 31, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "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": "B2RBS5;B7Z8D9;F8W6N6;Q53F07", "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:0031523 Myb complex", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P10244-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14656-1", "uniprot_id": [ { "id": "TOR1A_HUMAN", "url": "https://www.uniprot.org/uniprot/O14656", "type": "external" } ], "mass": 37809.0, "length": 332, "protein_name": "Torsin-1A", "gene_name": "TOR1A", "organism": "Human", "refseq_name": "torsin-1A precursor", "refseq_ac": [ { "id": "NP_000104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000104", "type": "external" } ], "gene_names_uniprotkb": "TOR1A; DQ2; DYT1; TA; TORA", "gene_names_refseq": "AMC5; DQ2; DYT1; TOR1A", "protein_names_uniprotkb": "Torsin-1A; 3.6.4.-; Dystonia 1 protein; Torsin ATPase-1A; Torsin family 1 member A", "protein_names_refseq": "dystonia 1 protein; dystonia 1, torsion (autosomal dominant; torsin A); torsin ATPase 1; torsin ATPase-1A; torsin-1A precursor", "tax_id": 9606, "disease": "focal dystonia (Disease Ontology:DOID:0050836); torsion dystonia 1 (Disease Ontology:DOID:0060730); arthrogryposis multiplex congenita-5 (Disease Ontology:DOID:0080981); Charcot-Marie-Tooth disease axonal type 2T (Disease Ontology:DOID:0110160); cerebellar ataxia type 43 (Disease Ontology:DOID:0111745); heart conduction disease (Disease Ontology:DOID:10273); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); membranous glomerulonephritis (Disease Ontology:DOID:10976); diarrhea (Disease Ontology:DOID:13250); Parkinson's disease (Disease Ontology:DOID:14330); dystonia (Disease Ontology:DOID:543); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); periodontitis (Disease Ontology:DOID:824); cerebral amyloid angiopathy (Disease Ontology:DOID:9246)", "pathway": " (hsa:1861); (R-HSA-8856825)", "pathway_count": 2, "publication_count": 141, "publication_id_list": "10097102;10436022;10567358;10613896;10640617;10769163;10871631;10983987;11071885;11076969;11237011;11247302;11454741;11523564;11588219;11919637;11927540;11988742;12086608;12221107;12234931;12429842;12451172;12464600;12717448;12944396;12958364;1317852;14662753;14726597;14970196;15134832;15147511;1535555;15473838;15505207;15671180;15728179;15767459;16159959;16361107;16459302;16460808;16516836;16723738;16903783;17037984;17267500;17360967;17428918;17456551;17522231;17713526;18032517;18166656;18167355;18199683;18477710;18775314;18819912;18827015;19140243;19339278;19535332;1968060;19696798;19732400;19853559;19955557;20015956;20169475;20231386;20351096;21102408;21995445;22118466;22357968;22484487;2257624;22942912;23481700;23569223;24186068;24190977;24384571;24680432;24746795;24930953;25576301;25892735;26403691;26829388;26940431;27490483;27920218;28228285;28510447;28514659;28516161;28832583;28855257;2890644;29053766;29242379;29741879;29769354;30244176;30315122;30484775;30573663;31844290;32157095;32350084;32357974;32387766;32938616;32983136;33298915;33592498;33912179;33968037;3417785;34433824;34932366;35051231;36863527;37074911;37165749;38438257;38665916;39894887;40914422;7569928;7822302;8553074;8837779;9169477;9288096;9303539;9723620;9812899", "class_list": "", "function": "Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review., [RefSeq, PubMed]; Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia-like movements., [RefSeq, PubMed]; Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular trafficking and may regulate the subcellular location of multipass membrane proteins such as the dopamine transporter SLC6A3, leading to the modulation of dopamine neurotransmission. In the endoplasmic reticulum, plays a role in the quality control of protein folding by increasing clearance of misfolded proteins such as SGCE variants or holding them in an intermediate state for proper refolding. May have a redundant function with TOR1B in non-neural tissues., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 16, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RB58;Q53Y64;Q96CA0", "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.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "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": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity;GO:0008092 cytoskeletal protein binding", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0051584 regulation of dopamine uptake involved in synaptic transmission;GO:1900244 positive regulation of synaptic vesicle endocytosis;GO:0006979 response to oxidative stress;GO:0007155 cell adhesion;GO:0031175 neuron projection development", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "O14656-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O96014-1", "uniprot_id": [ { "id": "WNT11_HUMAN", "url": "https://www.uniprot.org/uniprot/O96014", "type": "external" } ], "mass": 39179.0, "length": 354, "protein_name": "Protein Wnt-11", "gene_name": "WNT11", "organism": "Human", "refseq_name": "protein Wnt-11 precursor", "refseq_ac": [ { "id": "NP_004617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617", "type": "external" } ], "gene_names_uniprotkb": "WNT11", "gene_names_refseq": "HWNT11; WNT11", "protein_names_uniprotkb": "Protein Wnt-11", "protein_names_refseq": "protein Wnt-11 precursor; protein Wnt-11; wingless-type MMTV integration site family, member 11", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); renal cell carcinoma (Disease Ontology:DOID:4450)", "pathway": " (hsa:7481); (R-HSA-3238698); (R-HSA-373080); (R-HSA-4086398); (R-HSA-4086400); (R-HSA-9830674)", "pathway_count": 6, "publication_count": 171, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10380924;10391246;10391247;10395542;10488343;10588714;10694878;10698942;10777564;10858654;10862746;11015615;11030334;11031247;11101902;11231171;11297558;11358862;11433298;11563835;11712081;11751577;11779461;12015605;12015986;12086864;12098667;12134165;12471263;12482967;12533515;12556497;12559132;12717451;12729560;12839624;12975316;14636582;14704854;14977528;15084607;15143170;15169958;15494017;15498814;15501440;15545263;15608632;15611108;15701629;15936275;16116452;16280981;16364628;16495441;16602827;16645052;16678095;16678096;16723543;16880514;16920709;16971168;17021034;17108000;17117926;17130287;17141155;17373907;17397399;17426020;17433286;17627283;17684012;18160347;18160348;18162551;18193032;18193037;18215320;18256687;18430724;18456304;18488142;18719708;18798527;18801728;19177143;19365405;19442504;19523939;19530173;19536106;19566487;19589360;19619488;19837038;19851316;20004982;20006983;20477987;20533886;20803696;20826466;20940229;20966082;21118996;21316585;21554866;21725318;21725319;21768372;21886182;21903638;22027831;22041890;22046319;22094269;22094272;22108505;22653731;22773843;22784633;22888000;22941947;22952392;22983114;23109420;23140633;23144463;23148298;23151663;23256519;23260141;23396967;23416699;23632248;23821037;23904219;26590425;2841328;32350084;33137935;33592498;34107237;34564708;3616618;37087802;38275609;6950381;7797535;8082781;8167409;8198617;8262072;8386612;8397094;8557170;8612563;8732687;8770894;8906787;8985181;9064337;9073455;9389482;9674432;9716412;9757009", "class_list": "", "function": "Cardiac Wnt5a and Wnt11 promote fibrosis by the crosstalk of FZD5 and EGFR signaling under pressure overload. Publication Status: Online-Only, [RefSeq, PubMed]; Gollop-Wolfgang Complex Is Associated with a Monoallelic Variation in WNT11. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of Wnt11 impairs the osteogenesis and aggravates the inflammatory response of human mesenchymal stem cells under LPS-induced inflammatory condition. Erratum:[Biochem Biophys Res Commun. 2026 Jan 8;795:153068. doi: 10.1016/j.bbrc.2025.153068. PMID: 41402163], [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters., [UniProtKB]; Noncanonical Wnt Signaling Promotes Myofibroblast Differentiation in Pulmonary Fibrosis., [RefSeq, PubMed]; The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 97%, 85%, and 63% amino acid identity with mouse, chicken, and Xenopus Wnt11 protein, respectively. This gene may play roles in the development of skeleton, kidney and lung, and is considered to be a plausible candidate gene for High Bone Mass Syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; WNT11 mRNA was up-regulated in four cases of colorectal adenocarcinoma, and a case of renal cell carcinoma. Up-regulation of WNT11 mRNA might play an important role in human carcinogenesis through activation of the WNT signaling pathway., [RefSeq, PubMed]; WNT11-Conditioned Medium Promotes Angiogenesis through the Activation of Non-Canonical WNT-PKC-JNK Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Wnt11 promotes cardiac differentiation via the non-canonical PKC-dependent signaling pathway, [RefSeq, PubMed]; Wnt11 stimulates proliferation, migration, cytoskeletal rearrangement, and contact-independent growth by a beta-catenin-independent mechanism, [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "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": "B2R8Z6;Q14DE8;Q8WZ98", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0030295 protein kinase activator activity;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0071300 cellular response to retinoic acid;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0031667 response to nutrient levels", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "O96014-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96N58-1", "uniprot_id": [ { "id": "ZN578_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96N58", "type": "external" } ], "mass": 68531.0, "length": 590, "protein_name": "Zinc finger protein 578", "gene_name": "ZNF578", "organism": "Human", "refseq_name": "zinc finger protein 578", "refseq_ac": [ { "id": "NP_001093164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093164", "type": "external" } ], "gene_names_uniprotkb": "ZNF578", "gene_names_refseq": "ZNF578", "protein_names_uniprotkb": "Zinc finger protein 578", "protein_names_refseq": "Putative chemokine-related protein B42; zinc finger protein 578", "tax_id": 9606, "disease": "", "pathway": " (hsa:147660)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;28514659;28832583;28834231;29242379;30379171;30429286;31154438;31844290;31848261;32157095;35580925", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B4DR51;I3L1Y6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q96N58-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P39210-1", "uniprot_id": [ { "id": "MPV17_HUMAN", "url": "https://www.uniprot.org/uniprot/P39210", "type": "external" } ], "mass": 19733.0, "length": 176, "protein_name": "Mitochondrial inner membrane protein Mpv17", "gene_name": "MPV17", "organism": "Human", "refseq_name": "mitochondrial inner membrane protein Mpv17 isoform 3", "refseq_ac": [ { "id": "NP_002428", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002428", "type": "external" } ], "gene_names_uniprotkb": "MPV17", "gene_names_refseq": "CMT2EE; MPV17; MTDPS6; SYM1", "protein_names_uniprotkb": "Mitochondrial inner membrane protein Mpv17; Protein Mpv17", "protein_names_refseq": "MPV17, mitochondrial inner membrane protein; MpV17 mitochondrial inner membrane protein; Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome; mitochondrial inner membrane protein Mpv17 isoform 3; protein Mpv17", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome (Disease Ontology:DOID:0070329); mitochondrial DNA depletion syndrome 3 (Disease Ontology:DOID:0080121); mitochondrial DNA depletion syndrome 6 (Disease Ontology:DOID:0080125); Alport syndrome 2 (Disease Ontology:DOID:0110033); Charcot-Marie-Tooth disease type 2EE (Disease Ontology:DOID:0111559); nephrotic syndrome (Disease Ontology:DOID:1184); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:4358); (R-HSA-9033241)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "10022913;10562279;10673331;11101887;11237011;11546814;11781871;11931631;12456682;12559034;12578380;12717447;12885776;15545321;15858711;16582907;16582910;16854980;16909392;17007944;17694548;17726030;18359941;18695062;18712838;19197237;19208625;19520594;19584060;19632994;20074988;20178365;20843780;21554508;21976670;21980954;22002062;22057399;22371489;22508010;22747494;23714749;23829229;23963456;24190800;24235149;24865970;25016021;25129007;25418920;25538232;25576301;25854684;25861990;25892735;26086376;26138649;26220973;26344566;26437932;26741492;26760297;27397612;27536553;27597759;27846572;28207748;28228285;28521612;28611990;28765278;28787099;29282788;29557506;29769354;30298599;30315122;30833296;31844290;32157095;32357974;32938616;32983136;33298915;33592498;33717175;33912179;33968037;34171305;34932366;35051231;35580925;35919033;36184088;36284347;36581221;36753038;7719337;7790377;8281143;8427063;8824437;8858165;8991089;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "Comprehensive Analysis on the Specific Role and Function of Mitochondrial Inner Membrane Protein MPV17 in Liver Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants., [RefSeq, PubMed]; Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis (PubMed:25861990). Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance (PubMed:26760297). May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]., [RefSeq]; [Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "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": "D6W555;Q53SY2;Q96B08", "ec_number_list": [], "go_molecular_function": "GO:0015267 channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane", "go_biological_process": "GO:0048839 inner ear development;GO:0032836 glomerular basement membrane development", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "P39210-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEM7-1", "uniprot_id": [ { "id": "SP20H_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEM7", "type": "external" } ], "mass": 85789.0, "length": 779, "protein_name": "Transcription factor SPT20 homolog", "gene_name": "SUPT20H", "organism": "Human", "refseq_name": "transcription factor SPT20 homolog isoform a", "refseq_ac": [ { "id": "NP_001014308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014308", "type": "external" } ], "gene_names_uniprotkb": "SUPT20H; C13orf19; FAM48A; FP757", "gene_names_refseq": "C13orf19; C13; FAM48A; FP757; P38IP; SPT20; SUPT20H", "protein_names_uniprotkb": "Transcription factor SPT20 homolog; p38-interacting protein; p38IP", "protein_names_refseq": "family with sequence similarity 48, member A; protein FAM48A; suppressor of Ty 20 homolog; transcription factor (p38 interacting protein); transcription factor SPT20 homolog isoform a; transcription factor SPT20 homolog; tumor rejection antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:55578); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10786633;10821277;11237011;11340631;12070015;15313887;15498874;16387653;16751104;18381289;18452278;18623064;19187765;19651622;19690332;19893488;20018852;20068231;22645359;23186163;24220028;24715725;25418920;25880248;25892735;26024233;26758079;26992070;27531877;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29557506;29632046;29769354;30059200;30315122;30379171;30410026;30524438;31210371;31492838;31844290;31848261;32157095;32357974;32387766;32574038;32938616;32938750;33298915;33592498;33633747;33691108;33912179;33968037;33981976;34019948;34561969;34846842;35051231;35132862;35289036;35318648;35580925;36010968;36215666;38665916;39531497;40307207;40596516;9427644;9558366;9880483", "class_list": "", "function": "MRNA is down-regulated in human prostate cancer, also described as C13, [RefSeq, PubMed]; Novel transcription factors identified in human CD34 antigen-positive hematopoietic stem cells., [RefSeq, PubMed]; Our results indicate that FAM48A is a kind of sensor that is required for compensatory autophagy induction upon proteasome impairment., [RefSeq, PubMed]; P38IP inhibits ubiquitination-induced GCN5 degradation and therefore promotes alpha-tubulin acetylation, facilitating spindle formation and G2/M progression., [RefSeq, PubMed]; Provide the first report that p38-p38IP is required for the Snail-induced E-cadherin down-regulation and cell invasion in HNSCC, [RefSeq, PubMed]; Required for MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) activation during gastrulation. Required for down-regulation of E-cadherin during gastrulation by regulating E-cadherin protein level downstream from NCK-interacting kinase (NIK) and independently of the regulation of transcription by FGF signaling and Snail (By similarity). Required for starvation-induced ATG9A trafficking during autophagy., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "E7ER46;Q71RF3;Q9Y6A6", "ec_number_list": [], "go_molecular_function": "GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0070461 SAGA-type complex;GO:0005634 nucleus;GO:0000124 SAGA complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0006914 autophagy;GO:0043484 regulation of RNA splicing;GO:0007369 gastrulation", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q8NEM7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUB5-1", "uniprot_id": [ { "id": "MKNK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUB5", "type": "external" } ], "mass": 51342.0, "length": 465, "protein_name": "MAP kinase-interacting serine/threonine-protein kinase 1", "gene_name": "MKNK1", "organism": "Human", "refseq_name": "MAP kinase-interacting serine/threonine-protein kinase 1 isoform 2", "refseq_ac": [ { "id": "NP_945324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945324", "type": "external" } ], "gene_names_uniprotkb": "MKNK1; MNK1", "gene_names_refseq": "MKNK1; MNK1", "protein_names_uniprotkb": "MAP kinase-interacting serine/threonine-protein kinase 1; 2.7.11.1; MAP kinase signal-integrating kinase 1; MAPK signal-integrating kinase 1; Mnk1", "protein_names_refseq": "MAP kinase interacting serine/threonine kinase 1; MAP kinase signal-integrating kinase 1; MAP kinase-interacting serine/threonine-protein kinase 1 isoform 2; MAP kinase-interacting serine/threonine-protein kinase 1; MAPK signal-integrating kinase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8569); (R-HSA-1295596)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10887178;11053437;11154262;11237011;11238463;11279012;11463832;11698404;12391162;12593795;12593796;12815057;15031289;15234964;15350534;15564375;15637081;16162500;16479008;16893902;17255109;17344846;17590453;17993263;18669648;19690147;20927323;23186163;24366607;24714562;25880248;26154972;26992070;27846572;27920218;28218747;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29557506;29632046;29769354;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33968037;34171305;34561969;34834018;34932366;35051231;35580925;36581221;36764601;37938771;39270021;9155017;9155018;9878069", "class_list": "", "function": "Blocking tumor-intrinsic MNK1 kinase restricts metabolic adaptation and diminishes liver metastasis., [RefSeq, PubMed]; MNK1 and MNK2 Expression in the Human Dorsal Root and Trigeminal Ganglion., [RefSeq, PubMed]; May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine-containing mRNA cap., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; MiR-370-3p Regulates Adipogenesis through Targeting Mknk1. Publication Status: Online-Only, [RefSeq, PubMed]; The activity of MKNK1 was characterized., [RefSeq, PubMed]; This gene encodes a Ser/Thr protein kinase that interacts with, and is activated by ERK1 and p38 mitogen-activated protein kinases, and thus may play a role in the response to environmental stress and cytokines. This kinase may also regulate transcription by phosphorylating eIF4E via interaction with the C-terminal region of eIF4G. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 13, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DQ20;D3DQ21;O00312;Q5TC06;Q5TC07;Q6V0N6", "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": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "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:0009931 calcium-dependent protein serine/threonine kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006417 regulation of translation;GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9BUB5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2RRP1-1", "uniprot_id": [ { "id": "NBAS_HUMAN", "url": "https://www.uniprot.org/uniprot/A2RRP1", "type": "external" } ], "mass": 268571.0, "length": 2371, "protein_name": "NBAS subunit of NRZ tethering complex", "gene_name": "NBAS", "organism": "Human", "refseq_name": "NBAS subunit of NRZ tethering complex", "refseq_ac": [ { "id": "NP_056993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993", "type": "external" } ], "gene_names_uniprotkb": "NBAS; NAG", "gene_names_refseq": "ILFS2; NAG; NBAS; SOPH", "protein_names_uniprotkb": "NBAS subunit of NRZ tethering complex; Neuroblastoma-amplified gene protein; Neuroblastoma-amplified sequence", "protein_names_refseq": "NAG/BC035112 fusion; NAG/FAM49A fusion; NBAS subunit of NRZ tethering complex; neuroblastoma amplified sequence; neuroblastoma-amplified gene protein", "tax_id": 9606, "disease": "infantile liver failure syndrome (Disease Ontology:DOID:0080716); short stature-optic atrophy-Pelger-Hut anomaly syndrome (MONDO:MONDO:0013889); infantile liver failure syndrome 2 (MONDO:MONDO:0014659)", "pathway": " (hsa:51594); (R-HSA-6811434)", "pathway_count": 2, "publication_count": 187, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10882752;10921873;11172815;11237011;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12706883;14504276;14654841;15029241;15037235;15272311;15616190;15632110;15813748;16030262;1631136;16571679;16633337;1680566;16912714;16926190;16940185;17113389;17253781;17360540;17429068;17451557;17760859;17927562;17956946;18182008;18287528;18318008;18452278;18491316;18524849;18669648;18809720;1898986;19015319;19109418;19151722;19164740;19369418;1957170;19608861;19631211;19651622;19690332;19758564;20005805;20068231;20136777;20166139;20357002;20427317;20462495;20534429;20577004;20637885;21219331;21406692;21550981;21689688;21844168;22013193;22094269;22304919;22424782;23186163;23396477;23481700;24275569;24366607;24714562;25364732;25436559;25492864;25576301;25645385;25892735;26073778;26154972;26286438;26375851;26728094;26758079;26992070;27600516;27789416;27846572;27862975;27893789;27920218;28063628;28228285;28514659;28576691;28629372;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30379171;30429286;30524438;30825388;31217245;31844290;32146038;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33542026;33592498;33633747;33707149;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34211107;34386911;34509645;34932366;35051231;35251023;35318648;35580925;35902954;36010968;36241641;36284347;36768954;37938771;38665916;39302247;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9926938;9990005", "class_list": "", "function": "Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants., [RefSeq, PubMed]; Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418). Required for normal embryonic development (By similarity). May play a role in the nonsense-mediated decay pathway of mRNAs containing premature stop codons (By similarity)., [UniProtKB, PubMed, UniProtKB]; Modulation of NBAS-Related Functions in the Early Response to SARS-CoV-2 Infection. Publication Status: Online-Only, [RefSeq, PubMed]; NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency., [RefSeq, PubMed]; NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis. Publication Status: Online-Only, [RefSeq, PubMed]; Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 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": 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": 62, "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": "O95790;Q2VPJ7;Q53TK6;Q86V39;Q8NFY8;Q9Y3W5", "ec_number_list": [], "go_molecular_function": "GO:0000149 SNARE binding", "go_cellular_component": "GO:0070939 Dsl1/NZR complex;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0015031 protein transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0000956 nuclear-transcribed mRNA catabolic process;GO:2000623 negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "A2RRP1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VZ52-1", "uniprot_id": [ { "id": "MORN5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VZ52", "type": "external" } ], "mass": 18731.0, "length": 161, "protein_name": "MORN repeat-containing protein 5", "gene_name": "MORN5", "organism": "Human", "refseq_name": "MORN repeat-containing protein 5 isoform a", "refseq_ac": [ { "id": "NP_940871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940871", "type": "external" } ], "gene_names_uniprotkb": "MORN5; C9orf113; C9orf18", "gene_names_refseq": "C9orf113; C9orf18; MORN5", "protein_names_uniprotkb": "MORN repeat-containing protein 5", "protein_names_refseq": "MORN repeat-containing protein 5 isoform a; MORN repeat-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:254956)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;20583170;28742876;32488085", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B7Z7I5;Q6ZQN1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0031514 motile cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5VZ52-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H239-1", "uniprot_id": [ { "id": "MMP28_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H239", "type": "external" } ], "mass": 58939.0, "length": 520, "protein_name": "Matrix metalloproteinase-28", "gene_name": "MMP28", "organism": "Human", "refseq_name": "matrix metalloproteinase-28 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001027449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027449", "type": "external" } ], "gene_names_uniprotkb": "MMP28; MMP25; PRO4339", "gene_names_refseq": "EPILYSIN; MM28; MMP-25; MMP-28; MMP28", "protein_names_uniprotkb": "Matrix metalloproteinase-28; 3.4.24.-; Epilysin; MMP-28", "protein_names_refseq": "matrix metalloproteinase-28 isoform 3 precursor; matrix metalloproteinase-28", "tax_id": 9606, "disease": "", "pathway": " (hsa:79148)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11121398;11237011;11255011;12164918;12975309;23584533;29729262;30913394;32268921;33191847;35051231;39894887", "class_list": "", "function": "Can degrade casein. Could play a role in tissues homeostasis and repair., [UniProtKB]; Circulating MMP-28 was elevated in atrial fibrillation, [RefSeq, PubMed]; Epilysin (MMP-28) expression is associated with cell proliferation during epithelial repair., [RefSeq, PubMed]; Expression and Clinical Significance of MMP-28 in Bladder Cancer., [RefSeq, PubMed]; Increased bronchoalveolar lavage fluid MMP28 concentrations were associated with increased % percentage alveolar neutrophils and total protein concentrations Publication Status: Online-Only, [RefSeq, PubMed]; Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]; Real-time PCR and dual-luciferase assay indicated that KLF9 directly inhibited MMP28 transcription. Decreased invasion and metastasis capability of GC cells caused by ectopic KLF9 expression could be rescued via reinforcing MMP28 expression in vivo. Collectively, our study indicates that KLF9 significantly suppresses GC cell invasion and metastasis through inhibiting MMP28 transcription., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "Q96F04;Q96TE2", "ec_number_list": [], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0030198 extracellular matrix organization;GO:0030574 collagen catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9H239-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LW4-1", "uniprot_id": [ { "id": "PRIPO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LW4", "type": "external" } ], "mass": 64412.0, "length": 560, "protein_name": "DNA-directed primase/polymerase protein", "gene_name": "PRIMPOL", "organism": "Human", "refseq_name": "DNA-directed primase/polymerase protein isoform 2", "refseq_ac": [ { "id": "NP_001287696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287696", "type": "external" } ], "gene_names_uniprotkb": "PRIMPOL; CCDC111", "gene_names_refseq": "CCDC111; MYP22; PRIMPOL; Primpol1", "protein_names_uniprotkb": "DNA-directed primase/polymerase protein; 2.7.7.102; 2.7.7.7; Coiled-coil domain-containing protein 111; hPrimpol1", "protein_names_refseq": "DNA-directed primase/polymerase protein isoform 2; DNA-directed primase/polymerase protein; coiled-coil domain-containing protein 111; hPrimpol1", "tax_id": 9606, "disease": "myopia (Disease Ontology:DOID:11830)", "pathway": " (hsa:201973)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;19690332;19773279;23186163;23481700;23579484;24126761;24207056;24240614;24267451;24682820;25255211;25262353;25418920;25550423;25576301;25680975;25680976;25746449;26375851;26626482;26710848;26728094;26929215;26984527;27819052;27989484;28396594;28534480;29557506;29608762;30315122;30379171;30410026;30429286;30478192;30633872;30715459;30779550;30889508;31154438;31676232;31844290;31848261;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33691108;33912179;33968037;34171305;35051231;35561310;35580925;38203225;38492718;39153403", "class_list": "", "function": "3'dNTP Binding Is Modulated during Primer Synthesis and Translesion by Human PrimPol. Publication Status: Online-Only, [RefSeq, PubMed]; DNA primase and DNA polymerase required to tolerate replication-stalling lesions by bypassing them (PubMed:24126761, PubMed:24207056, PubMed:24240614, PubMed:24267451, PubMed:24682820, PubMed:25255211, PubMed:25262353, PubMed:25550423, PubMed:25746449, PubMed:27989484, PubMed:28534480, PubMed:29608762, PubMed:30889508, PubMed:31676232). Required to facilitate mitochondrial and nuclear replication fork progression by initiating de novo DNA synthesis using dNTPs and acting as an error-prone DNA polymerase able to bypass certain DNA lesions (PubMed:24126761, PubMed:24207056, PubMed:24240614, PubMed:24267451, PubMed:24682820, PubMed:25255211, PubMed:25262353, PubMed:25550423, PubMed:25746449, PubMed:27989484, PubMed:28534480, PubMed:29608762, PubMed:30633872, PubMed:30889508). Shows a high capacity to tolerate DNA damage lesions such as 8oxoG and abasic sites in DNA (PubMed:24126761, PubMed:24207056, PubMed:24240614, PubMed:24267451, PubMed:25746449). Provides different translesion synthesis alternatives when DNA replication is stalled: able to synthesize DNA primers downstream of lesions, such as ultraviolet (UV) lesions, R-loops and G-quadruplexes, to allow DNA replication to continue (PubMed:24240614, PubMed:26626482, PubMed:28534480, PubMed:30478192). Can also realign primers ahead of 'unreadable lesions' such as abasic sites and 6-4 photoproduct (6-4 pyrimidine-pyrimidinone), thereby skipping the lesion. Repriming avoids fork degradation while leading to accumulation of internal ssDNA gaps behind the forks (PubMed:24240614, PubMed:25746449, PubMed:31676232). Also able to incorporate nucleotides opposite DNA lesions such as 8oxoG, like a regular translesion synthesis DNA polymerase (PubMed:24207056, PubMed:25255211, PubMed:25746449). Also required for reinitiating stalled forks after UV damage during nuclear DNA replication (PubMed:24240614). Required for mitochondrial DNA (mtDNA) synthesis and replication, by reinitiating synthesis after UV damage or in the presence of chain-terminating nucleotides (PubMed:24207056). Prevents APOBEC family-mediated DNA mutagenesis by repriming downstream of abasic site to prohibit error-prone translesion synthesis (By similarity). Has non-overlapping function with POLH (PubMed:24240614). In addition to its role in DNA damage response, also required to maintain efficient nuclear and mitochondrial DNA replication in unperturbed cells (PubMed:30715459)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DNA synthesis across DNA hairpins by human PrimPol., [RefSeq, PubMed]; Data suggest that, during genetic transcription, Prim-Pol-alpha-cat binds the DNA/RNA junction at 5prime-terminus of RNA primer (or initiating NTP, nucleoside-triphosphate)., [RefSeq, PubMed]; Identification of a novel missense variant of the CCDC111 gene in a high myopia family., [RefSeq, PubMed]; Implicate PrimPol in promoting restart of DNA synthesis downstream of, but closely coupled to, G4 replication impediments., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PRIMPOL depletion results in increased spontaneous DNA damage and defects in the restart of stalled replication forks., [RefSeq, PubMed]; PrimPol Variant V102A with Altered Primase and Polymerase Activities., [RefSeq, PubMed]; This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 20, "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": "A0A0A0MTC0;D3DP55;D6RDM1;Q5HYJ9", "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:0003887 DNA-directed DNA polymerase activity;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0030145 manganese ion binding;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005657 replication fork", "go_biological_process": "GO:0009411 response to UV;GO:0019985 translesion synthesis;GO:0006269 DNA replication, synthesis of primer;GO:0006264 mitochondrial DNA replication;GO:0043504 mitochondrial DNA repair", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q96LW4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13201-1", "uniprot_id": [ { "id": "MMRN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13201", "type": "external" } ], "mass": 138110.0, "length": 1228, "protein_name": "Multimerin-1", "gene_name": "MMRN1", "organism": "Human", "refseq_name": "multimerin-1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_031377", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031377", "type": "external" } ], "gene_names_uniprotkb": "MMRN1; ECM; EMILIN4; GPIA*; MMRN", "gene_names_refseq": "ECM; EMILIN4; GPIa*; MMRN1; MMRN", "protein_names_uniprotkb": "Multimerin-1; EMILIN-4; Elastin microfibril interface located protein 4; Elastin microfibril interfacer 4; Endothelial cell multimerin", "protein_names_refseq": "elastin microfibril interface located protein 4; elastin microfibril interfacer 4; endothelial cell multimerin; glycoprotein Ia*; multimerin-1 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:22915); (R-HSA-114608); (R-HSA-5173105)", "pathway_count": 3, "publication_count": 59, "publication_id_list": "10.1021/acs.analchem.6b02887;10613677;11237011;12665801;1435334;14630798;15297306;16263699;16335952;16363244;18452278;19132231;19139490;19159218;23090970;23345538;23640497;25576301;26154972;26992070;28035807;28832583;28912033;29242379;29314611;29391424;29557506;29671580;29786170;30237853;30459171;30779550;31154438;31217245;31682009;31844290;31937595;32938616;33091337;33141586;33263168;33968037;35051231;35251023;35580925;36215666;36723821;36775122;37074911;37938771;38237698;38253038;39775168;6457647;7629143;8467233;8514871;8652809;9798985", "class_list": "", "function": "Analysis of Multimerin 1 (MMRN1) expression in ovarian cancer., [RefSeq, PubMed]; Carrier protein for platelet (but not plasma) factor V/Va. Plays a role in the storage and stabilization of factor V in platelets. Upon release following platelet activation, may limit platelet and plasma factor Va-dependent thrombin generation. Ligand for integrin alpha-IIb/beta-3 and integrin alpha-V/beta-3 on activated platelets, and may function as an extracellular matrix or adhesive protein., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; MMRN1 expression in healthy human palatal mucosa is strongly negatively correlated with serum cotinine levels., [RefSeq, PubMed]; Multimerin 1 aids in the progression of ovarian cancer possibly via modulation of DNA damage response and repair pathways., [RefSeq, PubMed]; Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [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": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 21, "reported_o_glycosites": 4, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 18, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 22, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 22, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 121, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 67, "disease_count": 0, "glyco_site_count": 34, "binding_glycan_count": 0, "secondary_ac_list": "Q4W5L1;Q6P3T8;Q6ZUL9", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0031093 platelet alpha granule lumen;GO:0031091 platelet alpha granule", "go_biological_process": "GO:0090051 negative regulation of cell migration involved in sprouting angiogenesis;GO:0007155 cell adhesion;GO:0007596 blood coagulation;GO:0033627 cell adhesion mediated by integrin;GO:0061045 negative regulation of wound healing", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "Q13201-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100010010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14934-1", "uniprot_id": [ { "id": "NFAC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14934", "type": "external" } ], "mass": 95449.0, "length": 902, "protein_name": "Nuclear factor of activated T-cells, cytoplasmic 4", "gene_name": "NFATC4", "organism": "Human", "refseq_name": "nuclear factor of activated T-cells, cytoplasmic 4 isoform 1", "refseq_ac": [ { "id": "NP_001129494", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129494", "type": "external" } ], "gene_names_uniprotkb": "NFATC4; NFAT3", "gene_names_refseq": "NF-AT3; NF-ATC4; NFAT3; NFATC4", "protein_names_uniprotkb": "Nuclear factor of activated T-cells, cytoplasmic 4; NF-AT3; NF-ATc4; NFATc4; T-cell transcription factor NFAT3", "protein_names_refseq": "T-cell transcription factor NFAT3; nuclear factor of activated T-cells, cytoplasmic 4 isoform 1; nuclear factor of activated T-cells, cytoplasmic 4; nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:4776)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10089876;11237011;11514544;11997522;12370307;14978097;15657420;17081983;17194453;17213202;17875713;18086672;18218901;18220336;18347059;18668201;18675896;18691762;19026640;19651622;23301498;24715725;25576301;25663301;26992070;27307045;27846572;27893713;28228285;28832583;29180489;29242379;29557506;30429286;31844290;31848261;32157095;32161166;32182216;32350084;32502341;32805187;32938616;33592498;33633747;33968037;34171305;34932366;35051231;35318648;38810124;7749981", "class_list": "", "function": "Ca(2+)-regulated transcription factor that is involved in several processes, including the development and function of the immune, cardiovascular, musculoskeletal, and nervous systems (PubMed:11514544, PubMed:11997522, PubMed:17213202, PubMed:17875713, PubMed:18668201, PubMed:25663301, PubMed:7749981). Involved in T-cell activation, stimulating the transcription of cytokine genes, including that of IL2 and IL4 (PubMed:18347059, PubMed:18668201, PubMed:7749981). Along with NFATC3, involved in embryonic heart development. Following JAK/STAT signaling activation and as part of a complex with NFATC3 and STAT3, binds to the alpha-beta E4 promoter region of CRYAB and activates transcription in cardiomyocytes (By similarity). Involved in mitochondrial energy metabolism required for cardiac morphogenesis and function (By similarity). Transactivates many genes involved in the cardiovascular system, including AGTR2, NPPB/BNP (in synergy with GATA4), NPPA/ANP/ANF and MYH7/beta-MHC (By similarity). Involved in the regulation of adult hippocampal neurogenesis. Involved in BDNF-driven pro-survival signaling in hippocampal adult-born neurons. Involved in the formation of long-term spatial memory and long-term potentiation (By similarity). In cochlear nucleus neurons, may play a role in deafferentation-induced apoptosis during the developmental critical period, when auditory neurons depend on afferent input for survival (By similarity). Binds to and activates the BACE1/Beta-secretase 1 promoter, hence may regulate the proteolytic processing of the amyloid precursor protein (APP) (PubMed:25663301). Plays a role in adipocyte differentiation (PubMed:11997522). May be involved in myoblast differentiation into myotubes (PubMed:17213202). Binds the consensus DNA sequence 5'-GGAAAAT-3' (Probable). In the presence of CREBBP, activates TNF transcription (PubMed:11514544). Binds to PPARG gene promoter and regulates its activity (PubMed:11997522). Binds to PPARG and REG3G gene promoters (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; NFATC4 promotes quiescence and chemotherapy resistance in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; NULP1 Alleviates Cardiac Hypertrophy by Suppressing NFAT3 Transcriptional Activity., [RefSeq, PubMed]; TBX5 deficiency-mediated downregulation of NFAT3 is crucial for the high cytokine-producing activity of T cells, [RefSeq, PubMed]; The m7G Methyltransferase Mettl1 Drives Cardiac Hypertrophy by Regulating SRSF9-Mediated Splicing of NFATc4., [RefSeq, PubMed]; This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 27, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DDG5;B4DY55;B5B2U7;B5B2U8;B5B2U9;B5B2V0;B5B2V1;B5B2V2;B5B2V3;B5B2V4;B5B2V5;B5B2V7;B5B2V8;B5B2V9;B5B2W0;B5B2W1;B5B2W2;B5B2W3;B5B2W4;B5B2W5;B5B2W6;B5B2W7;B5B2W8;B5B2W9;B5B2X0;Q7Z598;Q96H68", "ec_number_list": [], "go_molecular_function": "GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006954 inflammatory response;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0043524 negative regulation of neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q14934-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86T75-1", "uniprot_id": [ { "id": "NBPFB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86T75", "type": "external" } ], "mass": 99433.0, "length": 865, "protein_name": "NBPF family member NBPF11", "gene_name": "NBPF11", "organism": "Human", "refseq_name": "NBPF family member NBPF11 isoform b", "refseq_ac": [ { "id": "NP_001095133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095133", "type": "external" } ], "gene_names_uniprotkb": "NBPF11; NBPF24", "gene_names_refseq": "NBPF11; NBPF24", "protein_names_uniprotkb": "NBPF family member NBPF11; Neuroblastoma breakpoint family member 11; Neuroblastoma breakpoint family member 24", "protein_names_refseq": "NBPF family member NBPF11 isoform b; NBPF family member NBPF11; neuroblastoma breakpoint family member 11; neuroblastoma breakpoint family, member 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:200030)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;16079250;25892735;29557506;30779550;31154438;32938616;33592498;35494241", "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": 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": "B1AKG1;B7Z7R4;Q5RGN0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q86T75-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVL0-1", "uniprot_id": [ { "id": "NAV3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVL0", "type": "external" } ], "mass": 255648.0, "length": 2385, "protein_name": "Neuron navigator 3", "gene_name": "NAV3", "organism": "Human", "refseq_name": "neuron navigator 3 isoform 1", "refseq_ac": [ { "id": "NP_001019554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019554", "type": "external" } ], "gene_names_uniprotkb": "NAV3; KIAA0938; POMFIL1; STEERIN3", "gene_names_refseq": "NAV3; NEDSFB; POMFIL1; STEERIN3; unc53H3", "protein_names_uniprotkb": "Neuron navigator 3; Pore membrane and/or filament-interacting-like protein 1; Steerin-3; Unc-53 homolog 3; unc53H3", "protein_names_refseq": "neuron navigator 3 isoform 1; pore membrane and/or filament interacting like protein 1; unc-53 homolog 3", "tax_id": 9606, "disease": "cerebellar hypoplasia (Disease Ontology:DOID:0070338); opiate dependence (Disease Ontology:DOID:2559); neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities (MONDO:MONDO:0976285)", "pathway": " (hsa:89795)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;12062803;12079279;15158073;16166283;18337827;21406692;21471154;24715725;25576301;25645385;25678558;25892735;26210448;27397612;27600516;27846572;28063628;28657654;29242379;29393594;29557506;29632046;29671580;29789417;30379171;31530632;31844290;32157095;32488085;32502341;32938616;33592498;33968037;33981976;34087483;35051231;35254053;35580925;36010968;36241641;36883877;38977784;39038237;39708122;41350704", "class_list": "", "function": "Allelic NAV3 aberrations (LOH or deletion by FISH were identified in 44% of the subcutaneous panniculitis-like T-cell lymphoma samples., [RefSeq, PubMed]; Is involved in microtubule cytoskeleton organization and plays a role in cell migration (PubMed:21471154, PubMed:38977784)., [UniProtKB, PubMed, PubMed]; Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder., [RefSeq, PubMed]; The authers propose that NAV3 inhibits breast cancer progression by regulating microtubule dynamics, biasing directionally persistent rather than random migration, and inhibiting locomotion of initiated cells., [RefSeq, PubMed]; This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Together, our findings suggest an important role for miR-21 in the progression of HCC, which negatively regulated Navigator-3 in the migration of HCC., [RefSeq, PubMed]; Tumour Suppressor Neuron Navigator 3 and Matrix Metalloproteinase 14 are Co-expressed in Most Melanomas but Downregulated in Thick Tumours. Publication Status: Online-Only, [RefSeq, PubMed]; Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 233, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q8NFW7;Q9Y2E7", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005874 microtubule;GO:0005640 nuclear outer membrane;GO:0005634 nucleus", "go_biological_process": "GO:0032703 negative regulation of interleukin-2 production;GO:0007399 nervous system development;GO:0030336 negative regulation of cell migration;GO:0007026 negative regulation of microtubule depolymerization;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q8IVL0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z553-1", "uniprot_id": [ { "id": "MDGA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z553", "type": "external" } ], "mass": 107436.0, "length": 956, "protein_name": "MAM domain-containing glycosylphosphatidylinositol anchor protein 2", "gene_name": "MDGA2", "organism": "Human", "refseq_name": "MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform 2", "refseq_ac": [ { "id": "NP_878250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_878250", "type": "external" } ], "gene_names_uniprotkb": "MDGA2; MAMDC1; PRO23197", "gene_names_refseq": "MAMDC1; MDGA2; c14_5286", "protein_names_uniprotkb": "MAM domain-containing glycosylphosphatidylinositol anchor protein 2; MAM domain-containing protein 1", "protein_names_refseq": "MAM domain containing 1; MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform 2; MAM domain-containing glycosylphosphatidylinositol anchor protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:161357); (R-HSA-163125)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;11072085;11237011;12975309;18762592;19440164;19997561;2443973;26206665;28904123;29242379;29557506;31848261;32157095;32488085;33298915;3422494;35051231;36010968;36215666;37074911;38253038", "class_list": "", "function": "A novel tumour suppressor gene, MDGA2, which is frequently inactivated by promoter methylation in Gastric cancer was identified. Promoter hypermethylation of MDGA2 represents a prognostic biomarker in patients with early stage Gastric cancer., [RefSeq, PubMed]; A novel uncharacterized gene, MAMDC1 (MAM domain containing glycosylphosphatidylinositol anchor 2, also known as MDGA2, MIM 611128), represents a putative susceptibility gene for systemic lupus erythematosus. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; MAMDC1 gene is implicated in neuroticism. GeneRIF: Genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; May be involved in cell-cell interactions., [UniProtKB]; No association of rs7151262 with neuroticism was found, [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "F6W3S7;J3KPX6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0021522 spinal cord motor neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q7Z553-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAC9-1", "uniprot_id": [ { "id": "SCAM5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAC9", "type": "external" } ], "mass": 26104.0, "length": 235, "protein_name": "Secretory carrier-associated membrane protein 5", "gene_name": "SCAMP5", "organism": "Human", "refseq_name": "secretory carrier-associated membrane protein 5", "refseq_ac": [ { "id": "NP_001171582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171582", "type": "external" } ], "gene_names_uniprotkb": "SCAMP5", "gene_names_refseq": "SCAMP5", "protein_names_uniprotkb": "Secretory carrier-associated membrane protein 5; Secretory carrier membrane protein 5; hSCAMP5", "protein_names_refseq": "hSCAMP5; secretory carrier-associated membrane protein 5", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); Parkinson's disease (Disease Ontology:DOID:14330); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:192683)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;15840657;19234194;19240033;20071347;28218747;29437277;29557506;30315122;30779550;31154438;33372133;33981976;34357683;34426610;34728555;35296555", "class_list": "", "function": "Activation-induced colocalisation of SCAMP5 with IFNalpha in human plasmacytoid dendritic cells., [RefSeq, PubMed]; Exposure to ER stress increases SCAMP5 in the striatum, which positively regulates mtHTT aggregation via the endocytosis pathway, [RefSeq, PubMed]; Investigations into SCAMP5, a candidate lupus risk gene expressed in plasmacytoid dendritic cells., [RefSeq, PubMed]; Required for the calcium-dependent exocytosis of signal sequence-containing cytokines such as CCL5. Probably acts in cooperation with the SNARE machinery. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) in case of endoplasmic reticulum stress by inhibiting the endocytosis pathway., [UniProtKB, PubMed]; SCAMP2/5 as diagnostic and prognostic markers for acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; SCAMP5 is involved in calcium-regulated exocytosis of signal peptide-containing cytokines, in cooperation with the SNARE machinery of secretory vesicles., [RefSeq, PubMed]; SCAMP5 plays a critical role in axonal trafficking and synaptic localization of NHE6 to adjust quantal size at glutamatergic synapses., [RefSeq, PubMed]; Scanp5 is predicted to play a role in neuronal vesicle trafficking and be involed in autism, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPJ7;B7Z762;D3DW71;Q8N3M4", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0032588 trans-Golgi network membrane;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0045806 negative regulation of endocytosis;GO:0015031 protein transport;GO:0001819 positive regulation of cytokine production;GO:0006887 exocytosis;GO:0034976 response to endoplasmic reticulum stress", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8TAC9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47900-1", "uniprot_id": [ { "id": "P2RY1_HUMAN", "url": "https://www.uniprot.org/uniprot/P47900", "type": "external" } ], "mass": 42072.0, "length": 373, "protein_name": "P2Y purinoceptor 1", "gene_name": "P2RY1", "organism": "Human", "refseq_name": "P2Y purinoceptor 1", "refseq_ac": [ { "id": "NP_002554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002554", "type": "external" } ], "gene_names_uniprotkb": "P2RY1", "gene_names_refseq": "P2RY1; P2Y1; SARCC", "protein_names_uniprotkb": "P2Y purinoceptor 1; ADP receptor; P2Y1; Purinergic receptor", "protein_names_refseq": "ATP receptor; P2 purinoceptor subtype Y1; P2Y purinoceptor 1; platelet ADP receptor; purinergic receptor P2Y, G-protein coupled, 1; suppressing androgen receptor in renal cell carcinoma", "tax_id": 9606, "disease": "impotence (Disease Ontology:DOID:1875)", "pathway": " (hsa:5028); (R-HSA-416476); (R-HSA-417957); (R-HSA-418592)", "pathway_count": 4, "publication_count": 76, "publication_id_list": "10191087;10567430;10727532;10753868;10759852;10861009;11004484;11015615;11156592;11196645;11546776;11742120;11753430;12120503;12386137;12458155;14742685;15199474;15951850;16182515;16268477;16268778;16339447;16754659;16774927;16923326;16990797;17166850;18088087;18297070;18434541;18466763;18515384;18577758;18936096;1905813;19339661;19552634;23890048;24393016;24414167;25822790;26194851;26758983;27694321;27863418;28089137;2841328;3086311;31154438;3304967;33435130;33912179;34357683;35051231;36681816;37442808;38159881;7937899;8159738;8537336;8579591;8630005;8664309;8666290;8670200;8720746;8733591;8910365;9038354;9223435;9305846;9364473;9405388;9442040;9770463", "class_list": "", "function": "Association between P2Y1 and P2Y12 polymorphisms and acute myocardial infarction and ADP-induced platelet aggregation. Publication Status: Online-Only, [RefSeq, PubMed]; Exploring bias in platelet P2Y1 signalling: Host defence versus haemostasis. Review article, [RefSeq, PubMed]; Exploring the role of purinergic receptor P2RY1 in type 2 diabetes risk and pathophysiology: Insights from human functional genomics., [RefSeq, PubMed]; Nucleotides-Induced Changes in the Mechanical Properties of Living Endothelial Cells and Astrocytes, Analyzed by Atomic Force Microscopy. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for extracellular adenine nucleotides such as ADP (PubMed:25822790, PubMed:9038354, PubMed:9442040). In platelets, binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and ultimately platelet aggregation (PubMed:9442040)., [UniProtKB, PubMed, PubMed, PubMed]; The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0001621 G protein-coupled ADP receptor activity;GO:0031686 A1 adenosine receptor binding;GO:0045031 G protein-coupled ATP receptor activity;GO:0005524 ATP binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0009986 cell surface", "go_biological_process": "GO:0090075 relaxation of muscle;GO:0060406 positive regulation of penile erection;GO:0032962 positive regulation of inositol trisphosphate biosynthetic process;GO:0035589 G protein-coupled purinergic nucleotide receptor signaling pathway;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P47900-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P34949-1", "uniprot_id": [ { "id": "MPI_HUMAN", "url": "https://www.uniprot.org/uniprot/P34949", "type": "external" } ], "mass": 46656.0, "length": 423, "protein_name": "Mannose-6-phosphate isomerase", "gene_name": "MPI", "organism": "Human", "refseq_name": "mannose-6-phosphate isomerase isoform 3", "refseq_ac": [ { "id": "NP_001276085", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276085", "type": "external" } ], "gene_names_uniprotkb": "MPI; PMI1", "gene_names_refseq": "CDG1B; MPI; PMI1; PMI", "protein_names_uniprotkb": "Mannose-6-phosphate isomerase; 5.3.1.8; PMI; Phosphohexomutase; Phosphomannose isomerase", "protein_names_refseq": "mannose-6-phosphate isomerase isoform 3; mannose-6-phosphate isomerase; phosphohexomutase; phosphomannose isomerase 1", "tax_id": 9606, "disease": "congenital disorder of glycosylation type I (Disease Ontology:DOID:0050570); congenital disorder of glycosylation Ib (Disease Ontology:DOID:0080554); carbohydrate metabolic disorder (Disease Ontology:DOID:2978)", "pathway": " (hsa:4351); (R-HSA-4043916); (R-HSA-446205)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "10980531;11082198;11134235;11237011;11350186;12357336;12414827;12756558;16540464;23481700;24035193;24275569;25576301;25645385;25880248;26375851;26768311;26992070;27397612;27920218;28218747;28228285;28446606;28644127;28832583;28834231;28855257;28904123;29242379;29437277;29557506;30315122;30379171;30410026;3080572;31016744;31154438;31530632;31844290;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33592498;33717175;33912179;33968037;33986552;34313879;34509645;34958513;35051231;35561310;35580925;36241641;5946626;8307007;9070917;9119384;9140401;9525984;9585601", "class_list": "glycogene", "function": "Isomerase that catalyzes the interconversion of fructose-6-P and mannose-6-P and has a critical role in the supply of D-mannose derivatives required for many eukaryotic glycosylation reactions., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; MPI loss is a driver of liver fibrosis and suggest that modulating mannose metabolism pathways could reduce hepatic stellate cell activation and improve hepatic fibrosis., [RefSeq, PubMed]; MPI-based bioinformatic analysis and co-inhibitory therapy with mannose for oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]; Selective Immobilization of His-Tagged Phosphomannose Isomerase on Ni Chelated Nanoparticles with Good Reusability and Activity., [RefSeq, PubMed]; This work provides mechanistic evidence by which mannose phosphate isomerase loss induces p53, and identifies mannose phosphate isomerase as a novel regulator of p53 and Warburg metabolism. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 619, "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": "A8K8K9;Q96AB0", "ec_number_list": [ { "id": "5.3.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.8", "type": "external" } ], "go_molecular_function": "GO:0004476 mannose-6-phosphate isomerase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0061611 mannose to fructose-6-phosphate catabolic process;GO:0009298 GDP-mannose biosynthetic process;GO:0061729 GDP-D-mannose biosynthetic process from fructose-6-phosphate;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P34949-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true } ]